Mutagenetix > Incidental Mutation

Incidental Mutation 'R9383:Zfp119b'

710182

Institutional Source

Beutler Lab

Gene Symbol

Zfp119b

Ensembl Gene

ENSMUSG00000062101

Gene Name

zinc finger protein 119b

Synonyms

BC031441

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9383 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56245381-56256500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56246355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 277 (Y277C)

Ref Sequence

ENSEMBL: ENSMUSP00000058300 (fasta)

Gene Model

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

AlphaFold

Q8K0G9

Predicted Effect

probably damaging
Transcript: ENSMUST00000056147
AA Change: Y277C

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058300
Gene: ENSMUSG00000062101
AA Change: Y277C

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 damaging
Transcript: ENSMUST00000189452
AA Change: Y245C

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139791
Gene: ENSMUSG00000062101
AA Change: Y245C

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	A	G	8: 95,661,162 (GRCm39)	E124G		Het
Atp1a2	T	C	1: 172,107,334 (GRCm39)	I729V	probably benign	Het
Ccn2	T	G	10: 24,471,883 (GRCm39)	V58G	possibly damaging	Het
Chd2	T	A	7: 73,098,918 (GRCm39)	E1467V	probably null	Het
Col6a5	T	C	9: 105,803,110 (GRCm39)	D1285G	unknown	Het
Coro7	A	G	16: 4,452,888 (GRCm39)	C287R	probably damaging	Het
Cpa3	T	C	3: 20,283,045 (GRCm39)	E134G	probably benign	Het
Csf3r	C	T	4: 125,937,239 (GRCm39)	P708S	possibly damaging	Het
Defb30	T	C	14: 63,273,463 (GRCm39)	E49G	probably benign	Het
Dnah3	A	T	7: 119,646,819 (GRCm39)	I1070K	probably benign	Het
Dnm2	G	A	9: 21,383,920 (GRCm39)	V234M	probably damaging	Het
Drg2	T	A	11: 60,350,287 (GRCm39)	M82K	probably benign	Het
Dus2	G	A	8: 106,776,950 (GRCm39)	E312K	probably benign	Het
Efcab6	T	C	15: 83,756,620 (GRCm39)	E1240G	possibly damaging	Het
Ep400	T	C	5: 110,833,351 (GRCm39)	E1957G	unknown	Het
Gpnmb	A	G	6: 49,028,918 (GRCm39)	S479G	probably damaging	Het
Gpr153	T	C	4: 152,367,516 (GRCm39)	S456P	probably benign	Het
Gprc5b	A	T	7: 118,575,761 (GRCm39)	M388K	probably damaging	Het
H2-T23	T	C	17: 36,343,227 (GRCm39)	D50G	possibly damaging	Het
Hipk1	T	C	3: 103,684,883 (GRCm39)	E244G	probably damaging	Het
Malrd1	T	A	2: 15,700,012 (GRCm39)	C620S	unknown	Het
Maz	G	A	7: 126,624,083 (GRCm39)	Q358*	probably null	Het
Mcc	A	T	18: 44,575,985 (GRCm39)	I901N	probably benign	Het
Megf11	T	G	9: 64,545,732 (GRCm39)	C172G	probably damaging	Het
Mipol1	A	G	12: 57,352,820 (GRCm39)	Y53C	probably benign	Het
Nectin4	C	T	1: 171,213,251 (GRCm39)	T391I	probably damaging	Het
Nell2	A	T	15: 95,282,957 (GRCm39)	Y362N	possibly damaging	Het
Nphp4	T	C	4: 152,628,918 (GRCm39)		probably null	Het
Nsun4	A	G	4: 115,891,473 (GRCm39)	V302A	probably benign	Het
Odf2	T	A	2: 29,791,249 (GRCm39)	L181H	probably damaging	Het
Opn1sw	A	G	6: 29,378,000 (GRCm39)	S328P	possibly damaging	Het
Or8k30	T	C	2: 86,338,854 (GRCm39)	I17T	probably damaging	Het
Pga5	C	T	19: 10,646,897 (GRCm39)	G303S	probably damaging	Het
Pik3c2g	T	A	6: 139,827,742 (GRCm39)	Y712*	probably null	Het
Pkd1	C	T	17: 24,794,900 (GRCm39)	R2196C	probably damaging	Het
Pkd1l3	TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA	TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA	8: 110,350,601 (GRCm39)		probably benign	Het
Plekhm2	A	T	4: 141,359,612 (GRCm39)	M385K	probably damaging	Het
Pole	T	C	5: 110,438,892 (GRCm39)	V164A	possibly damaging	Het
Prr19	T	A	7: 25,002,335 (GRCm39)	F11Y	probably damaging	Het
Prtg	G	T	9: 72,757,143 (GRCm39)	L355F	probably benign	Het
Raph1	C	A	1: 60,564,829 (GRCm39)	M219I	unknown	Het
Rtkn2	A	G	10: 67,839,094 (GRCm39)	D140G	possibly damaging	Het
Serpina5	T	C	12: 104,070,131 (GRCm39)	S343P	probably damaging	Het
Slc1a1	A	G	19: 28,889,125 (GRCm39)	K466R	probably benign	Het
Slc43a1	G	A	2: 84,690,506 (GRCm39)	V518M	probably damaging	Het
Slc47a2	A	G	11: 61,227,749 (GRCm39)	L125P	probably damaging	Het
Slc4a7	C	A	14: 14,766,803 (GRCm38)	C585*	probably null	Het
Snx19	A	G	9: 30,347,196 (GRCm39)	E713G	probably damaging	Het
Tiam1	C	T	16: 89,655,561 (GRCm39)	V715M	probably damaging	Het
Tln2	T	A	9: 67,278,043 (GRCm39)	M322L	probably benign	Het
Top2a	G	A	11: 98,901,884 (GRCm39)	R449*	probably null	Het
Trpv4	C	A	5: 114,796,474 (GRCm39)		probably benign	Het
Vmn1r214	A	C	13: 23,219,095 (GRCm39)	R196S	probably benign	Het
Vmn1r43	A	T	6: 89,846,552 (GRCm39)	H311Q	possibly damaging	Het
Vmn1r54	A	G	6: 90,247,009 (GRCm39)	T308A	probably benign	Het
Zfand3	T	A	17: 30,354,479 (GRCm39)	Y99N	probably benign	Het
Zfp345	G	A	2: 150,314,503 (GRCm39)	H345Y	possibly damaging	Het
Zyg11a	T	C	4: 108,046,926 (GRCm39)	E516G	probably 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
R6644:Zfp119b	UTSW	17	56,246,148 (GRCm39)	missense	probably benign	0.21
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
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'- TTCATTTCTTAGATTGCTGGGGAAT -3'
(R):5'- CAGCCACACCGAAGAACTCATTT -3'

Sequencing Primer
(F):5'- CCCACACTGATTGCATTTATAGGG -3'
(R):5'- CACACCGAAGAACTCATTTGGGAATG -3'

Posted On

2022-04-18