Mutagenetix > Incidental Mutation

Incidental Mutation 'R6644:Zfp119b'

526042

Institutional Source

Beutler Lab

Gene Symbol

Zfp119b

Ensembl Gene

ENSMUSG00000062101

Gene Name

zinc finger protein 119b

Synonyms

BC031441

MMRRC Submission

044765-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6644 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56245381-56256500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56246148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 346 (N346S)

Ref Sequence

ENSEMBL: ENSMUSP00000058300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056147] [ENSMUST00000189452]

AlphaFold

Q8K0G9

Predicted Effect

probably benign
Transcript: ENSMUST00000056147
AA Change: N346S

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000058300
Gene: ENSMUSG00000062101
AA Change: N346S

Domain	Start	End	E-Value	Type
KRAB	4	56	2e-14	SMART
ZnF_C2H2	155	175	2.82e1	SMART
ZnF_C2H2	287	309	1.1e-2	SMART
ZnF_C2H2	315	337	2.24e-3	SMART
ZnF_C2H2	343	365	5.14e-3	SMART
ZnF_C2H2	371	393	4.79e-3	SMART
ZnF_C2H2	399	421	1.12e-3	SMART
ZnF_C2H2	427	449	5.14e-3	SMART
ZnF_C2H2	455	477	7.37e-4	SMART
ZnF_C2H2	483	505	4.87e-4	SMART
ZnF_C2H2	511	533	1.25e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000189452
AA Change: N314S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000139791
Gene: ENSMUSG00000062101
AA Change: N314S

Domain	Start	End	E-Value	Type
Blast:KRAB	1	34	8e-11	BLAST
ZnF_C2H2	123	143	1.2e-1	SMART
ZnF_C2H2	255	277	4.7e-5	SMART
ZnF_C2H2	283	305	9.1e-6	SMART
ZnF_C2H2	311	333	2.2e-5	SMART
ZnF_C2H2	339	361	2e-5	SMART
ZnF_C2H2	367	389	4.7e-6	SMART
ZnF_C2H2	395	417	2.1e-5	SMART
ZnF_C2H2	423	445	3.2e-6	SMART
ZnF_C2H2	451	473	2e-6	SMART
ZnF_C2H2	479	501	5.2e-4	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.3%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	C	T	10: 79,844,598 (GRCm39)	P1461L	probably damaging	Het
Abhd14a	T	C	9: 106,321,472 (GRCm39)	Y10C	probably damaging	Het
Adcy2	C	T	13: 68,816,671 (GRCm39)	V772M	possibly damaging	Het
Apob	A	G	12: 8,059,077 (GRCm39)	M2487V	probably damaging	Het
B4galnt1	T	C	10: 127,007,662 (GRCm39)		probably null	Het
Cabp7	C	T	11: 4,690,396 (GRCm39)	V76I	probably benign	Het
Cbr3	A	G	16: 93,487,399 (GRCm39)	Y194C	probably damaging	Het
Cdk18	G	A	1: 132,049,807 (GRCm39)	Q58*	probably null	Het
Cryba4	T	C	5: 112,394,628 (GRCm39)	D167G	probably damaging	Het
Czib	T	G	4: 107,752,119 (GRCm39)	I130S	probably damaging	Het
Dner	T	C	1: 84,373,428 (GRCm39)	N588S	probably damaging	Het
Dnm1l	T	C	16: 16,147,737 (GRCm39)	I343V	probably benign	Het
Eif1ad16	A	G	12: 87,985,460 (GRCm39)	F28L	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Fbxw17	G	A	13: 50,577,255 (GRCm39)	R49Q	probably damaging	Het
Garin2	T	A	12: 78,762,060 (GRCm39)	D241E	probably damaging	Het
Gm10332	T	A	14: 55,057,616 (GRCm39)	F59I	probably damaging	Het
Gnai3	A	G	3: 108,030,852 (GRCm39)		probably null	Het
Helz	T	A	11: 107,523,087 (GRCm39)	M75K	possibly damaging	Het
Hnrnph3	C	T	10: 62,854,672 (GRCm39)		probably benign	Het
Ifi211	C	T	1: 173,733,118 (GRCm39)	C181Y	probably benign	Het
Immp1l	A	G	2: 105,767,390 (GRCm39)	K83R	probably damaging	Het
Itga6	G	A	2: 71,671,468 (GRCm39)	G740R	probably damaging	Het
Klhl1	T	C	14: 96,755,354 (GRCm39)	T134A	probably benign	Het
Klhl7	A	G	5: 24,354,244 (GRCm39)	D353G	probably damaging	Het
Map3k1	A	G	13: 111,888,983 (GRCm39)	S1325P	probably benign	Het
Map3k4	A	G	17: 12,451,297 (GRCm39)		probably null	Het
Meioc	G	A	11: 102,559,286 (GRCm39)		probably null	Het
Mfap5	T	C	6: 122,497,555 (GRCm39)	F26L	probably damaging	Het
Myo5a	A	G	9: 75,054,249 (GRCm39)	T386A	probably damaging	Het
Npc1l1	A	T	11: 6,164,013 (GRCm39)	L1266Q	probably damaging	Het
Npc1l1	G	T	11: 6,164,014 (GRCm39)	L1266M	probably damaging	Het
Or4c116	A	G	2: 88,942,325 (GRCm39)	M177T	probably benign	Het
Or51aa2	C	A	7: 103,188,265 (GRCm39)	V59F	possibly damaging	Het
Pbld1	T	A	10: 62,910,842 (GRCm39)	S233T	probably damaging	Het
Phf12	A	G	11: 77,916,918 (GRCm39)	*789W	probably null	Het
Sf3b2	A	T	19: 5,329,992 (GRCm39)		probably null	Het
Slc23a3	A	G	1: 75,105,191 (GRCm39)	I459T	probably damaging	Het
Spata31e4	A	G	13: 50,856,071 (GRCm39)	T570A	possibly damaging	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Stard9	A	C	2: 120,526,253 (GRCm39)	M837L	probably benign	Het
Stx5a	A	T	19: 8,732,612 (GRCm39)		probably benign	Het
Tmc7	A	G	7: 118,137,385 (GRCm39)	V719A	probably benign	Het
Trank1	T	A	9: 111,193,902 (GRCm39)	I642K	possibly damaging	Het
Trim34a	T	C	7: 103,910,244 (GRCm39)	Y349H	probably damaging	Het
Uba7	A	G	9: 107,858,671 (GRCm39)	Y834C	possibly damaging	Het
Ube2d1	A	G	10: 71,092,530 (GRCm39)	S105P	possibly damaging	Het
Vps13a	A	G	19: 16,722,283 (GRCm39)	V343A	possibly damaging	Het
Zbtb37	G	A	1: 160,859,643 (GRCm39)	Q221*	probably null	Het
Zfp708	G	T	13: 67,218,785 (GRCm39)	T358K	possibly damaging	Het

Other mutations in Zfp119b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Zfp119b	APN	17	56,246,270 (GRCm39)	missense	probably damaging	1.00
IGL01868:Zfp119b	APN	17	56,246,866 (GRCm39)	missense	possibly damaging	0.70
IGL02623:Zfp119b	APN	17	56,246,793 (GRCm39)	missense	probably damaging	0.96
R0377:Zfp119b	UTSW	17	56,245,671 (GRCm39)	missense	probably damaging	1.00
R1833:Zfp119b	UTSW	17	56,246,271 (GRCm39)	missense	probably damaging	1.00
R2177:Zfp119b	UTSW	17	56,245,639 (GRCm39)	missense	probably damaging	1.00
R2297:Zfp119b	UTSW	17	56,246,355 (GRCm39)	missense	possibly damaging	0.46
R4273:Zfp119b	UTSW	17	56,245,926 (GRCm39)	missense	possibly damaging	0.79
R4801:Zfp119b	UTSW	17	56,246,642 (GRCm39)	missense	probably damaging	0.96
R4802:Zfp119b	UTSW	17	56,246,642 (GRCm39)	missense	probably damaging	0.96
R6525:Zfp119b	UTSW	17	56,246,992 (GRCm39)	missense	possibly damaging	0.96
R6950:Zfp119b	UTSW	17	56,246,137 (GRCm39)	missense	probably damaging	1.00
R6974:Zfp119b	UTSW	17	56,245,564 (GRCm39)	missense	probably benign	0.02
R7750:Zfp119b	UTSW	17	56,245,682 (GRCm39)	missense	probably damaging	1.00
R8882:Zfp119b	UTSW	17	56,246,923 (GRCm39)	missense	possibly damaging	0.84
R9383:Zfp119b	UTSW	17	56,246,355 (GRCm39)	missense	probably damaging	0.96
R9431:Zfp119b	UTSW	17	56,246,536 (GRCm39)	missense	possibly damaging	0.78
RF020:Zfp119b	UTSW	17	56,246,499 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTTCATTTCTTAGATTGCTGGGG -3'
(R):5'- GTAGGTAGAACTAATACTAGAGACACA -3'

Sequencing Primer
(F):5'- AAAGGCTTTCCCACACTGATTG -3'
(R):5'- GGGGTAAAGCCTTTACATATCCCAG -3'

Posted On

2018-06-22