Mutagenetix > Incidental Mutation

Incidental Mutation 'R8228:AI987944'

637052

Institutional Source

Beutler Lab

Gene Symbol

AI987944

Ensembl Gene

ENSMUSG00000056383

Gene Name

expressed sequence AI987944

Synonyms

MMRRC Submission

067661-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R8228 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41022347-41042803 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41026260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 14 (T14A)

Ref Sequence

ENSEMBL: ENSMUSP00000071708 (fasta)

Gene Model

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

AlphaFold

Q7TPX5

Predicted Effect

probably damaging
Transcript: ENSMUST00000071804
AA Change: T14A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071708
Gene: ENSMUSG00000056383
AA Change: T14A

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 damaging
Transcript: ENSMUST00000205338
AA Change: T11A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206801
AA Change: T14A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	C	6: 72,324,500 (GRCm39)		probably null	Het
1700008O03Rik	A	G	7: 44,009,729 (GRCm39)	Y158H	probably benign	Het
4930438A08Rik	T	A	11: 58,182,381 (GRCm39)	I252N		Het
A930011G23Rik	G	A	5: 99,524,980 (GRCm39)	P60S	probably damaging	Het
Abcf1	A	G	17: 36,271,933 (GRCm39)		probably null	Het
Alox12b	T	C	11: 69,054,755 (GRCm39)	Y253H	probably damaging	Het
Anapc1	T	A	2: 128,461,837 (GRCm39)	K1756*	probably null	Het
Arid5b	T	A	10: 68,114,536 (GRCm39)	E2V	possibly damaging	Het
Atp13a1	G	A	8: 70,251,569 (GRCm39)	V545M	probably damaging	Het
Atp2b4	TTCTTC	TTCTTCCTCTTC	1: 133,629,459 (GRCm39)		probably benign	Het
Cert1	A	G	13: 96,679,723 (GRCm39)	T18A	probably benign	Het
Cfap119	G	A	7: 127,184,179 (GRCm39)	T239M	probably benign	Het
Col1a1	T	G	11: 94,836,426 (GRCm39)		probably null	Het
Csdc2	C	T	15: 81,833,411 (GRCm39)	T136I	possibly damaging	Het
Dpp9	A	T	17: 56,498,129 (GRCm39)	I609N	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG,TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Gjb6	T	C	14: 57,361,926 (GRCm39)	R112G	probably benign	Het
Gm19410	A	G	8: 36,252,992 (GRCm39)	K646E	possibly damaging	Het
Grik5	T	C	7: 24,709,933 (GRCm39)	E934G	probably damaging	Het
Grik5	A	T	7: 24,745,735 (GRCm39)	F446Y	possibly damaging	Het
Iffo2	C	G	4: 139,302,483 (GRCm39)	N75K	probably damaging	Het
Kif15	A	G	9: 122,821,041 (GRCm39)	N649D	possibly damaging	Het
Lrit2	G	A	14: 36,791,148 (GRCm39)	A276T	probably damaging	Het
Mcm8	T	C	2: 132,684,714 (GRCm39)		probably null	Het
Mmut	A	G	17: 41,248,219 (GRCm39)	E82G	possibly damaging	Het
Or4n4	A	G	14: 50,518,997 (GRCm39)	S238P	probably damaging	Het
Or5w8	T	A	2: 87,688,284 (GRCm39)	M255K	probably benign	Het
Pcdhga8	A	G	18: 37,861,236 (GRCm39)	Q764R	probably benign	Het
Pcgf2	T	C	11: 97,582,865 (GRCm39)	Y138C	probably benign	Het
Phf20l1	G	T	15: 66,511,789 (GRCm39)	V922F	possibly damaging	Het
Pkd1l2	A	T	8: 117,792,514 (GRCm39)	I426N	probably damaging	Het
Psmd6	T	C	14: 14,116,843 (GRCm38)	N160S	possibly damaging	Het
Robo1	A	G	16: 72,809,768 (GRCm39)	D1172G	probably benign	Het
Sdr9c7	T	C	10: 127,734,544 (GRCm39)	Y11H	possibly damaging	Het
Sec24c	G	T	14: 20,739,975 (GRCm39)	A635S	probably benign	Het
Tex2	T	C	11: 106,457,997 (GRCm39)	I478V	probably benign	Het
Traip	T	C	9: 107,838,265 (GRCm39)	M166T	probably benign	Het
Trdn	T	C	10: 33,033,014 (GRCm39)	S80P	probably damaging	Het
Trim46	G	T	3: 89,142,255 (GRCm39)	T744N	probably benign	Het
Tsc1	C	A	2: 28,566,141 (GRCm39)	A520D	probably benign	Het
Usp36	T	C	11: 118,155,716 (GRCm39)	E852G	possibly damaging	Het
Vmn2r101	C	T	17: 19,811,284 (GRCm39)	T456I	probably benign	Het
Zc3h7a	A	G	16: 10,956,954 (GRCm39)	F885S	probably damaging	Het
Zfp335	G	A	2: 164,746,818 (GRCm39)	R354W	probably damaging	Het
Zfp456	C	A	13: 67,514,533 (GRCm39)	C391F	probably damaging	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
R7039:AI987944	UTSW	7	41,023,880 (GRCm39)	missense	probably benign
R8133:AI987944	UTSW	7	41,024,489 (GRCm39)	critical splice donor site	probably null
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'- CTTCCACACCCTCATTTGAAATTACA -3'
(R):5'- GTACAACCCAATACACCTAGCTT -3'

Sequencing Primer
(F):5'- CCCTCATTTGAAATTACAAAAGAGC -3'
(R):5'- ACTGACATTTCTCTTGCAAAGC -3'

Posted On

2020-07-13