Mutagenetix > Incidental Mutation

Incidental Mutation 'R7039:AI987944'

546945

Institutional Source

Beutler Lab

Gene Symbol

AI987944

Ensembl Gene

ENSMUSG00000056383

Gene Name

expressed sequence AI987944

Synonyms

MMRRC Submission

045139-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R7039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41022347-41042803 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41023880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 366 (S366R)

Ref Sequence

ENSEMBL: ENSMUSP00000145621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071804] [ENSMUST00000205338] [ENSMUST00000206801]

AlphaFold

Q7TPX5

Predicted Effect

probably benign
Transcript: ENSMUST00000071804
AA Change: S369R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071708
Gene: ENSMUSG00000056383
AA Change: S369R

Domain	Start	End	E-Value	Type
KRAB	4	65	8.72e-15	SMART
ZnF_C2H2	74	96	1.24e2	SMART
ZnF_C2H2	130	152	2.43e-4	SMART
ZnF_C2H2	181	203	5.21e-4	SMART
ZnF_C2H2	209	231	3.95e-4	SMART
ZnF_C2H2	237	259	1.95e-3	SMART
ZnF_C2H2	265	287	4.87e-4	SMART
ZnF_C2H2	293	315	1.72e-4	SMART
ZnF_C2H2	321	343	8.47e-4	SMART
ZnF_C2H2	349	371	9.73e-4	SMART
ZnF_C2H2	377	399	3.69e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205338
AA Change: S366R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206801

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7b	A	T	4: 56,741,022 (GRCm39)	L112Q	probably damaging	Het
Agap3	A	C	5: 24,688,399 (GRCm39)	I396L	probably benign	Het
Aox3	A	G	1: 58,215,714 (GRCm39)	T1049A	probably damaging	Het
Ap1g2	A	T	14: 55,340,111 (GRCm39)	L407*	probably null	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Brd3	T	C	2: 27,346,929 (GRCm39)	K402E	probably damaging	Het
Cc2d2b	A	T	19: 40,790,845 (GRCm39)	D935V	probably damaging	Het
Cenpe	A	G	3: 134,961,217 (GRCm39)	N1904D	probably benign	Het
Cfap74	G	T	4: 155,538,565 (GRCm39)		probably null	Het
Chrdl2	A	G	7: 99,677,879 (GRCm39)	T261A	probably damaging	Het
Cyp4a14	G	A	4: 115,348,278 (GRCm39)	R400C	probably benign	Het
Dhfr	G	A	13: 92,491,791 (GRCm39)	V9I	probably benign	Het
Epha4	A	G	1: 77,483,422 (GRCm39)	S196P	probably damaging	Het
Evc2	T	A	5: 37,579,232 (GRCm39)	L1115Q	probably damaging	Het
Fat3	T	A	9: 16,287,561 (GRCm39)	E654V	probably damaging	Het
Fcgbpl1	G	A	7: 27,839,573 (GRCm39)	R462Q	possibly damaging	Het
Fer1l4	C	T	2: 155,878,650 (GRCm39)	V14I	probably benign	Het
Frmd5	A	T	2: 121,378,128 (GRCm39)		probably benign	Het
Helz	T	C	11: 107,510,144 (GRCm39)		probably null	Het
Igkv6-13	T	C	6: 70,434,498 (GRCm39)	S116G	probably benign	Het
Iscu	T	C	5: 113,914,833 (GRCm39)	V115A	possibly damaging	Het
Jade2	C	A	11: 51,719,186 (GRCm39)	K253N	probably damaging	Het
Katnal2	A	G	18: 77,134,868 (GRCm39)		probably null	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Magi3	T	C	3: 103,958,699 (GRCm39)	D462G	probably damaging	Het
Map3k14	T	C	11: 103,111,861 (GRCm39)	N940S	probably damaging	Het
Masp2	A	T	4: 148,687,043 (GRCm39)	M1L	probably benign	Het
Mga	G	A	2: 119,763,159 (GRCm39)	V1272I	probably benign	Het
Mib2	T	C	4: 155,744,158 (GRCm39)	D168G	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Msto1	A	C	3: 88,818,697 (GRCm39)	V287G	probably damaging	Het
Myo5b	T	A	18: 74,834,599 (GRCm39)	D886E	probably benign	Het
Nek10	T	C	14: 14,826,946 (GRCm38)	I48T	possibly damaging	Het
Nek10	A	T	14: 14,986,700 (GRCm38)	R1013W	probably damaging	Het
Nipsnap3a	T	C	4: 53,000,130 (GRCm39)	V194A	probably damaging	Het
Nlrp9a	A	T	7: 26,267,367 (GRCm39)	T766S	probably benign	Het
Nol10	T	A	12: 17,479,185 (GRCm39)	S672T	possibly damaging	Het
Or4a80	A	T	2: 89,583,095 (GRCm39)	F26I	probably benign	Het
Or4c121	A	T	2: 89,023,790 (GRCm39)	I196N	probably damaging	Het
Or8d1b	T	A	9: 38,887,283 (GRCm39)	F104I	probably damaging	Het
Or8j3c	A	T	2: 86,253,177 (GRCm39)	I281K	possibly damaging	Het
Patj	T	A	4: 98,457,315 (GRCm39)	N1272K	probably damaging	Het
Peak1	T	C	9: 56,165,093 (GRCm39)	E945G	probably benign	Het
Peg3	C	T	7: 6,720,858 (GRCm39)	D16N	probably damaging	Het
Pik3r4	T	G	9: 105,554,089 (GRCm39)	I1082M	possibly damaging	Het
Plekhg5	T	A	4: 152,192,242 (GRCm39)	M472K	possibly damaging	Het
Plekhm1	T	C	11: 103,286,054 (GRCm39)	D127G	probably damaging	Het
Ppfia4	G	A	1: 134,239,853 (GRCm39)	S908L	probably damaging	Het
Psmc3	A	G	2: 90,885,391 (GRCm39)	N60S	probably benign	Het
Rapgef1	T	A	2: 29,616,226 (GRCm39)	D697E	probably damaging	Het
Rapgef3	T	A	15: 97,659,449 (GRCm39)	H54L	probably benign	Het
Rhobtb3	G	A	13: 76,020,572 (GRCm39)	R577*	probably null	Het
Safb2	T	C	17: 56,871,594 (GRCm39)	E218G	possibly damaging	Het
Scaf1	C	T	7: 44,657,850 (GRCm39)	R343H	probably damaging	Het
Snx24	G	A	18: 53,473,307 (GRCm39)		probably null	Het
Tbc1d1	T	C	5: 64,442,100 (GRCm39)	F707L	probably benign	Het
Tcaf2	T	C	6: 42,603,074 (GRCm39)	T829A	probably damaging	Het
Tcea2	C	T	2: 181,328,711 (GRCm39)	Q248*	probably null	Het
Tcirg1	A	T	19: 3,946,666 (GRCm39)	L729Q	probably damaging	Het
Thap3	A	G	4: 152,070,149 (GRCm39)	F82L	probably damaging	Het
Ttk	T	A	9: 83,750,145 (GRCm39)	M700K	probably damaging	Het
Ubap2l	G	T	3: 89,909,662 (GRCm39)	P56H	probably damaging	Het
Ubr2	A	G	17: 47,321,139 (GRCm39)	S3P	probably benign	Het
Uchl3	C	T	14: 101,923,128 (GRCm39)		probably benign	Het
Vmn2r111	T	A	17: 22,767,165 (GRCm39)	E777D	probably damaging	Het
Vmn2r20	A	T	6: 123,363,082 (GRCm39)	D567E	probably damaging	Het
Vps13c	T	G	9: 67,845,045 (GRCm39)	L2043R	probably damaging	Het
Zan	T	G	5: 137,398,396 (GRCm39)	D4212A	unknown	Het
Zap70	C	T	1: 36,817,832 (GRCm39)	P278S	probably benign	Het
Zbtb8b	A	T	4: 129,321,478 (GRCm39)	M461K	possibly damaging	Het
Zfat	T	G	15: 68,052,211 (GRCm39)	I528L	probably benign	Het
Zfp532	T	G	18: 65,771,834 (GRCm39)	V784G	probably benign	Het

Other mutations in AI987944

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03350:AI987944	APN	7	41,042,661 (GRCm39)	utr 5 prime	probably benign
G1citation:AI987944	UTSW	7	41,024,232 (GRCm39)	missense	probably damaging	1.00
R0744:AI987944	UTSW	7	41,026,283 (GRCm39)	missense	probably damaging	1.00
R1083:AI987944	UTSW	7	41,024,763 (GRCm39)	missense	probably benign	0.09
R1480:AI987944	UTSW	7	41,024,343 (GRCm39)	missense	probably benign	0.00
R1485:AI987944	UTSW	7	41,023,954 (GRCm39)	nonsense	probably null
R1491:AI987944	UTSW	7	41,023,772 (GRCm39)	nonsense	probably null
R1662:AI987944	UTSW	7	41,023,873 (GRCm39)	missense	possibly damaging	0.79
R1892:AI987944	UTSW	7	41,024,020 (GRCm39)	missense	probably damaging	1.00
R1906:AI987944	UTSW	7	41,024,550 (GRCm39)	missense	probably benign	0.02
R2037:AI987944	UTSW	7	41,023,815 (GRCm39)	missense	probably benign	0.04
R2092:AI987944	UTSW	7	41,024,041 (GRCm39)	missense	possibly damaging	0.58
R2202:AI987944	UTSW	7	41,023,950 (GRCm39)	missense	probably damaging	0.98
R5070:AI987944	UTSW	7	41,024,748 (GRCm39)	missense	probably benign	0.23
R5421:AI987944	UTSW	7	41,024,200 (GRCm39)	missense	probably benign	0.02
R5531:AI987944	UTSW	7	41,023,814 (GRCm39)	nonsense	probably null
R6822:AI987944	UTSW	7	41,024,232 (GRCm39)	missense	probably damaging	1.00
R8133:AI987944	UTSW	7	41,024,489 (GRCm39)	critical splice donor site	probably null
R8228:AI987944	UTSW	7	41,026,260 (GRCm39)	missense	probably damaging	1.00
R8342:AI987944	UTSW	7	41,024,310 (GRCm39)	missense	probably benign	0.01
R8826:AI987944	UTSW	7	41,024,627 (GRCm39)	missense	possibly damaging	0.95
R9583:AI987944	UTSW	7	41,023,937 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CAGCACTCAAAATTACTGTGATGTG -3'
(R):5'- AAGCCTTTTCACAACAAGGTC -3'

Sequencing Primer
(F):5'- GGGTTCCTCTGCAATATAAATTGGC -3'
(R):5'- TTTTCACAACAAGGTCACCTCAG -3'

Posted On

2019-05-13