Mutagenetix > Incidental Mutation

Incidental Mutation 'R9624:Gm14443'

725014

Institutional Source

Beutler Lab

Gene Symbol

Gm14443

Ensembl Gene

ENSMUSG00000078902

Gene Name

predicted gene 14443

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R9624 (G1)

Quality Score

192.009

Status

Not validated

Chromosome

Chromosomal Location

175008048-175017664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 175012129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 106 (N106Y)

Ref Sequence

ENSEMBL: ENSMUSP00000104682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109054]

AlphaFold

A2ARX0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109054
AA Change: N106Y

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104682
Gene: ENSMUSG00000078902
AA Change: N106Y

Domain	Start	End	E-Value	Type
KRAB	4	66	1.9e-15	SMART
ZnF_C2H2	78	97	1.38e2	SMART
ZnF_C2H2	103	123	3.05e1	SMART
ZnF_C2H2	131	153	1.25e-1	SMART
ZnF_C2H2	159	179	7.89e0	SMART
ZnF_C2H2	187	209	2.27e-4	SMART
ZnF_C2H2	215	237	4.54e-4	SMART
ZnF_C2H2	243	265	5.99e-4	SMART
ZnF_C2H2	271	293	4.54e-4	SMART
ZnF_C2H2	299	321	5.21e-4	SMART
ZnF_C2H2	327	349	3.95e-4	SMART
ZnF_C2H2	355	377	4.24e-4	SMART
ZnF_C2H2	383	405	5.21e-4	SMART
ZnF_C2H2	411	433	5.21e-4	SMART
ZnF_C2H2	439	461	3.95e-4	SMART
ZnF_C2H2	467	489	4.24e-4	SMART
ZnF_C2H2	495	517	5.21e-4	SMART
ZnF_C2H2	523	545	3.95e-4	SMART
ZnF_C2H2	551	573	5.21e-4	SMART
ZnF_C2H2	579	601	2.27e-4	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	T	12: 113,509,070 (GRCm39)	N481I	probably damaging	Het
Ahnak	T	A	19: 8,989,846 (GRCm39)	L3710Q	unknown	Het
Anapc15-ps	T	C	10: 95,508,965 (GRCm39)	D105G	probably benign	Het
Ankfn1	T	C	11: 89,414,033 (GRCm39)	N114S	probably benign	Het
Ankrd27	A	T	7: 35,301,891 (GRCm39)	T137S	possibly damaging	Het
Atp1b3	A	G	9: 96,222,293 (GRCm39)	S165P	probably benign	Het
Atxn7l3	T	C	11: 102,182,852 (GRCm39)	D256G	probably benign	Het
B430305J03Rik	C	A	3: 61,271,408 (GRCm39)	L112F	unknown	Het
Bub1	A	T	2: 127,646,766 (GRCm39)	I838K	probably damaging	Het
C3	T	A	17: 57,527,189 (GRCm39)	E753D	probably benign	Het
Cacnb4	T	C	2: 52,364,942 (GRCm39)	D107G	probably benign	Het
Cenpj	A	T	14: 56,802,387 (GRCm39)	H59Q	probably benign	Het
Cxxc1	A	T	18: 74,352,512 (GRCm39)	H364L	possibly damaging	Het
Dapk1	T	C	13: 60,895,937 (GRCm39)	I675T	probably benign	Het
Eln	A	G	5: 134,738,991 (GRCm39)	S663P	unknown	Het
Epha8	G	T	4: 136,659,065 (GRCm39)	P863Q	probably damaging	Het
Erich6	G	T	3: 58,536,766 (GRCm39)	T278N	possibly damaging	Het
Fam47e	G	C	5: 92,726,395 (GRCm39)	R111P	probably benign	Het
Fam83g	C	T	11: 61,575,328 (GRCm39)		probably benign	Het
Fanci	A	T	7: 79,085,117 (GRCm39)	I848L	probably benign	Het
Foxj3	T	A	4: 119,483,589 (GRCm39)	D620E	unknown	Het
Gm17654	T	C	14: 43,815,492 (GRCm39)	D105G		Het
Gps1	C	A	11: 120,677,434 (GRCm39)	A216D	probably damaging	Het
Hs3st3b1	T	C	11: 63,780,110 (GRCm39)	K339R	probably benign	Het
Ikzf1	A	G	11: 11,719,219 (GRCm39)	T396A	probably damaging	Het
Lratd2	A	T	15: 60,694,993 (GRCm39)	I251N	probably damaging	Het
Lrrc9	A	G	12: 72,497,586 (GRCm39)	I135V	probably benign	Het
Mylk	C	A	16: 34,699,677 (GRCm39)	Q347K	probably benign	Het
Myo1e	A	G	9: 70,303,156 (GRCm39)	Y1059C	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or10d1b	A	G	9: 39,613,822 (GRCm39)	F81S	probably benign	Het
Or10j3	A	T	1: 173,031,672 (GRCm39)	I250F	probably benign	Het
Or2y1	T	A	11: 49,385,834 (GRCm39)	I158N	possibly damaging	Het
Or6c33	T	C	10: 129,853,866 (GRCm39)	V212A	possibly damaging	Het
Or8g23	T	A	9: 38,971,453 (GRCm39)	N170Y	probably benign	Het
Or8g30	G	T	9: 39,230,848 (GRCm39)	Q21K	probably benign	Het
Piezo2	G	A	18: 63,197,767 (GRCm39)	P1590S	possibly damaging	Het
Prl7a2	T	A	13: 27,849,869 (GRCm39)	K68*	probably null	Het
Prss33	A	G	17: 24,054,656 (GRCm39)	V14A	probably benign	Het
Rad17	T	C	13: 100,773,503 (GRCm39)	N162S	probably damaging	Het
Sbf2	A	T	7: 109,963,857 (GRCm39)	V1042E	probably damaging	Het
Scn1a	A	T	2: 66,153,766 (GRCm39)	M689K	probably benign	Het
Senp7	A	T	16: 55,990,075 (GRCm39)	I608F	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	AGCTCAGCCACGGGGAC	AGCTCAGCCACGGGGACACGCTCAGCCACGGGGAC	7: 126,066,750 (GRCm39)		probably benign	Het
Sh2b1	GGGACCAGCTCAGCCACG	GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG	7: 126,066,744 (GRCm39)		probably benign	Het
Slc38a3	A	G	9: 107,532,510 (GRCm39)	V370A	probably damaging	Het
Sorbs2	A	G	8: 46,228,690 (GRCm39)	I307V	possibly damaging	Het
Spata13	C	T	14: 60,944,349 (GRCm39)	P581S	probably benign	Het
Spindoc	G	A	19: 7,352,197 (GRCm39)	T50M	probably benign	Het
Sppl2b	T	A	10: 80,699,373 (GRCm39)	F269Y	probably benign	Het
Stab1	C	T	14: 30,863,345 (GRCm39)	V2114M		Het
Tcerg1l	A	G	7: 137,995,923 (GRCm39)	V195A	possibly damaging	Het
Tent4a	A	T	13: 69,651,787 (GRCm39)	W545R	probably damaging	Het
Tmem128	G	T	5: 38,422,236 (GRCm39)	R105L	possibly damaging	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Vmn1r194	T	A	13: 22,428,671 (GRCm39)	I96N	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r78	G	A	7: 11,886,410 (GRCm39)	S7N	probably benign	Het
Wapl	T	A	14: 34,414,063 (GRCm39)	N308K	possibly damaging	Het

Other mutations in Gm14443

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02248:Gm14443	APN	2	175,012,107 (GRCm39)	missense	probably benign	0.01
R0081:Gm14443	UTSW	2	175,011,729 (GRCm39)	missense	probably damaging	1.00
R1312:Gm14443	UTSW	2	175,013,383 (GRCm39)	splice site	probably benign
R1958:Gm14443	UTSW	2	175,011,497 (GRCm39)	missense	probably benign	0.31
R4061:Gm14443	UTSW	2	175,011,402 (GRCm39)	missense	probably benign	0.01
R4089:Gm14443	UTSW	2	175,013,685 (GRCm39)	missense	probably damaging	1.00
R5306:Gm14443	UTSW	2	175,011,372 (GRCm39)	missense	possibly damaging	0.63
R5405:Gm14443	UTSW	2	175,013,644 (GRCm39)	missense	possibly damaging	0.55
R5417:Gm14443	UTSW	2	175,011,796 (GRCm39)	missense	probably damaging	1.00
R6422:Gm14443	UTSW	2	175,012,174 (GRCm39)	nonsense	probably null
R7410:Gm14443	UTSW	2	175,011,069 (GRCm39)	missense	possibly damaging	0.85
R7880:Gm14443	UTSW	2	175,011,163 (GRCm39)	missense	probably benign	0.08
R7962:Gm14443	UTSW	2	175,012,035 (GRCm39)	missense	probably benign	0.01
R8081:Gm14443	UTSW	2	175,012,238 (GRCm39)	nonsense	probably null
R8174:Gm14443	UTSW	2	175,011,468 (GRCm39)	missense	probably damaging	1.00
R8315:Gm14443	UTSW	2	175,013,640 (GRCm39)	critical splice donor site	probably null
R8725:Gm14443	UTSW	2	175,010,693 (GRCm39)	nonsense	probably null
R8804:Gm14443	UTSW	2	175,011,652 (GRCm39)	missense	probably damaging	0.98
R9109:Gm14443	UTSW	2	175,011,869 (GRCm39)	nonsense	probably null
R9298:Gm14443	UTSW	2	175,011,869 (GRCm39)	nonsense	probably null
R9332:Gm14443	UTSW	2	175,017,610 (GRCm39)	start gained	probably benign
R9766:Gm14443	UTSW	2	175,012,248 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTCCTGTATGTGTTCGCTTATGTA -3'
(R):5'- AATGCAGGAGAACACCTTTGA -3'

Sequencing Primer
(F):5'- CTGCAAAGGCTTTACCACATTGG -3'
(R):5'- TGCTCCTTTCAATGAAACCAAG -3'

Posted On

2022-09-12