Mutagenetix > Incidental Mutation

Incidental Mutation 'R9206:AI314180'

698509

Institutional Source

Beutler Lab

Gene Symbol

AI314180

Ensembl Gene

ENSMUSG00000050812

Gene Name

expressed sequence AI314180

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

R9206 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58798911-58912749 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58875444 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 173 (D173E)

Ref Sequence

ENSEMBL: ENSMUSP00000099953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055822] [ENSMUST00000102889] [ENSMUST00000107557] [ENSMUST00000134848] [ENSMUST00000144512] [ENSMUST00000149301]

AlphaFold

Q6PDI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000055822
AA Change: D173E

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

SMART Domains

Protein: ENSMUSP00000061113
Gene: ENSMUSG00000050812
AA Change: D173E

Domain	Start	End	E-Value	Type
Pfam:Ecm29	10	359	2.5e-110	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102889
AA Change: D173E

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

SMART Domains

Protein: ENSMUSP00000099953
Gene: ENSMUSG00000050812
AA Change: D173E

Domain	Start	End	E-Value	Type
Pfam:Ecm29	10	517	1.1e-155	PFAM
low complexity region	627	642	N/A	INTRINSIC
low complexity region	653	665	N/A	INTRINSIC
SCOP:d1qbkb_	693	1491	3e-31	SMART
low complexity region	1781	1797	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107557
AA Change: D173E

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

SMART Domains

Protein: ENSMUSP00000103182
Gene: ENSMUSG00000050812
AA Change: D173E

Domain	Start	End	E-Value	Type
Pfam:Ecm29	10	517	7.6e-164	PFAM
low complexity region	627	642	N/A	INTRINSIC
low complexity region	653	665	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000134848
AA Change: D177E

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

SMART Domains

Protein: ENSMUSP00000114715
Gene: ENSMUSG00000050812
AA Change: D177E

Domain	Start	End	E-Value	Type
Pfam:Ecm29	14	246	1.4e-76	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000144512
AA Change: D173E

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

SMART Domains

Protein: ENSMUSP00000118103
Gene: ENSMUSG00000050812
AA Change: D173E

Domain	Start	End	E-Value	Type
Pfam:Ecm29	10	517	2.3e-164	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000149301
AA Change: D173E

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

SMART Domains

Protein: ENSMUSP00000117585
Gene: ENSMUSG00000050812
AA Change: D173E

Domain	Start	End	E-Value	Type
Pfam:Ecm29	10	517	4e-163	PFAM
low complexity region	627	642	N/A	INTRINSIC
low complexity region	653	665	N/A	INTRINSIC
SCOP:d1qbkb_	693	1490	8e-32	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	G	17: 45,509,404 (GRCm38)	D248G	probably benign	Het
Abcc5	C	A	16: 20,389,389 (GRCm38)	V605F	probably benign	Het
Als2	A	G	1: 59,185,247 (GRCm38)	Y1066H	probably damaging	Het
Apbb1	A	G	7: 105,559,520 (GRCm38)	S569P	probably damaging	Het
Apex1	T	G	14: 50,925,668 (GRCm38)	D69E	possibly damaging	Het
Atg13	A	T	2: 91,682,061 (GRCm38)	F288I	probably benign	Het
Atl3	A	G	19: 7,510,082 (GRCm38)	I121V	probably benign	Het
Atoh1	A	G	6: 64,729,729 (GRCm38)	E136G	probably benign	Het
Ccr7	T	C	11: 99,149,069 (GRCm38)	N9S	probably benign	Het
Cdhr1	A	C	14: 37,080,548 (GRCm38)	W653G	probably damaging	Het
Cln6	T	A	9: 62,849,183 (GRCm38)	M203K	probably benign	Het
Crnn	A	C	3: 93,146,944 (GRCm38)	I45L	possibly damaging	Het
Cse1l	C	A	2: 166,941,265 (GRCm38)	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,682,300 (GRCm38)	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,966,969 (GRCm38)	I443V	probably benign	Het
Dnah7a	G	T	1: 53,501,598 (GRCm38)	T2539N	probably benign	Het
Fam13c	A	G	10: 70,553,039 (GRCm38)	E465G	probably damaging	Het
Fat4	G	C	3: 39,009,241 (GRCm38)	G4449R	probably damaging	Het
Fgd5	T	C	6: 92,038,210 (GRCm38)	L964S	probably damaging	Het
Fpr3	A	T	17: 17,970,869 (GRCm38)	Q134L	probably damaging	Het
Gm973	A	T	1: 59,552,426 (GRCm38)	Q323L	possibly damaging	Het
Gna15	A	G	10: 81,509,390 (GRCm38)	S214P	probably benign	Het
Iars2	A	T	1: 185,317,949 (GRCm38)	M446K	possibly damaging	Het
Kcnh7	A	G	2: 62,777,603 (GRCm38)	S545P	probably damaging	Het
Kif1a	G	T	1: 93,051,480 (GRCm38)	D928E	probably damaging	Het
Kif26a	C	T	12: 112,178,046 (GRCm38)	T1578M	possibly damaging	Het
Kif5a	A	G	10: 127,243,358 (GRCm38)		probably null	Het
Klhl31	T	A	9: 77,651,107 (GRCm38)	Y368*	probably null	Het
Krtap27-1	A	G	16: 88,671,428 (GRCm38)	V76A	possibly damaging	Het
Lamc1	A	T	1: 153,250,451 (GRCm38)	H498Q	probably damaging	Het
Ltbp4	A	T	7: 27,322,925 (GRCm38)	C924S	probably damaging	Het
Ltn1	T	C	16: 87,400,410 (GRCm38)	D1180G	probably benign	Het
Macf1	A	G	4: 123,684,132 (GRCm38)	C20R	unknown	Het
Mpp7	T	C	18: 7,403,327 (GRCm38)	R328G	probably benign	Het
Ncdn	A	T	4: 126,750,248 (GRCm38)	D260E	probably benign	Het
Nlrp9a	C	A	7: 26,558,231 (GRCm38)	L425M	possibly damaging	Het
Nop9	T	A	14: 55,750,135 (GRCm38)		probably null	Het
Nrip1	T	C	16: 76,292,728 (GRCm38)	E647G	possibly damaging	Het
Nt5c3	C	A	6: 56,897,808 (GRCm38)	M1I	probably null	Het
Olfr1314	A	G	2: 112,092,065 (GRCm38)	F212S	probably benign	Het
Olfr69	A	G	7: 103,768,271 (GRCm38)	I42T	probably benign	Het
Olfr892-ps1	T	C	9: 38,189,824 (GRCm38)	M33T	possibly damaging	Het
Patj	A	T	4: 98,539,073 (GRCm38)	I172F	unknown	Het
Plxna4	A	T	6: 32,517,444 (GRCm38)	V79D	probably damaging	Het
Ptprd	C	G	4: 75,954,078 (GRCm38)	A1134P	possibly damaging	Het
Rbm27	T	A	18: 42,314,098 (GRCm38)	Y469*	probably null	Het
Rbm33	A	G	5: 28,352,586 (GRCm38)	T266A	probably damaging	Het
Rcbtb2	C	T	14: 73,177,060 (GRCm38)	S437L	probably damaging	Het
Rcor3	A	T	1: 192,101,595 (GRCm38)	*448R	probably null	Het
Scn10a	T	C	9: 119,616,761 (GRCm38)	Y1442C	probably damaging	Het
Scn2a	A	T	2: 65,717,787 (GRCm38)	I1108F	probably damaging	Het
Scrn2	T	C	11: 97,032,136 (GRCm38)	I135T	probably damaging	Het
Sptan1	A	T	2: 30,030,712 (GRCm38)	M2380L	possibly damaging	Het
Tbc1d12	T	C	19: 38,836,998 (GRCm38)	S98P	probably benign	Het
Tmem106b	A	T	6: 13,082,431 (GRCm38)	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,834,213 (GRCm38)	V205A	probably benign	Het
Tor4a	A	T	2: 25,194,963 (GRCm38)	N309K	probably damaging	Het
Trbv4	A	G	6: 41,059,690 (GRCm38)	T50A	probably benign	Het
Tspyl4	A	G	10: 34,297,572 (GRCm38)	H20R	probably benign	Het
Tvp23b	T	C	11: 62,882,016 (GRCm38)	I31T	possibly damaging	Het
Vmn1r192	A	T	13: 22,187,231 (GRCm38)	F273Y	probably damaging	Het
Vmn2r6	T	A	3: 64,559,611 (GRCm38)	I156F	probably damaging	Het
Wnk4	T	C	11: 101,274,056 (GRCm38)	I737T	probably damaging	Het
Zfp329	A	T	7: 12,811,158 (GRCm38)	D146E	probably benign	Het
Zfp40	A	G	17: 23,175,577 (GRCm38)	F679L	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600 (GRCm38)		probably benign	Het
Zfp804b	T	C	5: 6,772,154 (GRCm38)	N303S	probably benign	Het

Other mutations in AI314180

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:AI314180	APN	4	58,828,047 (GRCm38)	missense	possibly damaging	0.95
IGL01145:AI314180	APN	4	58,811,501 (GRCm38)	missense	probably null	0.08
IGL01371:AI314180	APN	4	58,809,718 (GRCm38)	missense	probably damaging	1.00
IGL01445:AI314180	APN	4	58,833,988 (GRCm38)	missense	probably benign	0.08
IGL01452:AI314180	APN	4	58,836,181 (GRCm38)	missense	probably damaging	0.99
IGL01626:AI314180	APN	4	58,832,814 (GRCm38)	splice site	probably benign
IGL01672:AI314180	APN	4	58,814,041 (GRCm38)	missense	probably benign	0.40
IGL01943:AI314180	APN	4	58,849,937 (GRCm38)	missense	possibly damaging	0.91
IGL01944:AI314180	APN	4	58,861,544 (GRCm38)	missense	probably benign	0.42
IGL02190:AI314180	APN	4	58,800,190 (GRCm38)	missense	probably benign	0.12
IGL02272:AI314180	APN	4	58,811,731 (GRCm38)	missense	probably benign	0.00
IGL02435:AI314180	APN	4	58,830,325 (GRCm38)	splice site	probably benign
IGL02516:AI314180	APN	4	58,877,102 (GRCm38)	missense	probably damaging	1.00
IGL02540:AI314180	APN	4	58,805,534 (GRCm38)	splice site	probably benign
IGL02709:AI314180	APN	4	58,872,699 (GRCm38)	missense	possibly damaging	0.90
IGL02742:AI314180	APN	4	58,840,757 (GRCm38)	missense	probably damaging	0.96
IGL02812:AI314180	APN	4	58,864,343 (GRCm38)	splice site	probably benign
IGL02828:AI314180	APN	4	58,875,512 (GRCm38)	missense	possibly damaging	0.59
IGL03130:AI314180	APN	4	58,800,288 (GRCm38)	missense	probably benign
IGL03179:AI314180	APN	4	58,832,777 (GRCm38)	missense	probably damaging	1.00
IGL03237:AI314180	APN	4	58,810,668 (GRCm38)	missense	probably benign	0.40
IGL03344:AI314180	APN	4	58,828,538 (GRCm38)	missense	probably damaging	1.00
boone	UTSW	4	58,877,157 (GRCm38)	missense	probably damaging	1.00
Crockett	UTSW	4	58,879,100 (GRCm38)	missense	probably damaging	1.00
frontiersman	UTSW	4	58,832,753 (GRCm38)	missense	probably benign
BB006:AI314180	UTSW	4	58,869,554 (GRCm38)	missense	probably damaging	1.00
BB016:AI314180	UTSW	4	58,869,554 (GRCm38)	missense	probably damaging	1.00
R0051:AI314180	UTSW	4	58,832,729 (GRCm38)	missense	probably damaging	1.00
R0051:AI314180	UTSW	4	58,832,729 (GRCm38)	missense	probably damaging	1.00
R0313:AI314180	UTSW	4	58,811,892 (GRCm38)	missense	probably benign	0.11
R0399:AI314180	UTSW	4	58,827,047 (GRCm38)	missense	possibly damaging	0.69
R0487:AI314180	UTSW	4	58,819,155 (GRCm38)	missense	probably damaging	1.00
R0492:AI314180	UTSW	4	58,864,418 (GRCm38)	missense	probably damaging	1.00
R0705:AI314180	UTSW	4	58,885,366 (GRCm38)	critical splice donor site	probably null
R0847:AI314180	UTSW	4	58,841,439 (GRCm38)	missense	probably benign	0.14
R1467:AI314180	UTSW	4	58,832,753 (GRCm38)	missense	probably benign
R1467:AI314180	UTSW	4	58,832,753 (GRCm38)	missense	probably benign
R1482:AI314180	UTSW	4	58,820,163 (GRCm38)	missense	possibly damaging	0.85
R1529:AI314180	UTSW	4	58,832,701 (GRCm38)	splice site	probably null
R1771:AI314180	UTSW	4	58,879,100 (GRCm38)	missense	probably damaging	1.00
R1776:AI314180	UTSW	4	58,879,100 (GRCm38)	missense	probably damaging	1.00
R1822:AI314180	UTSW	4	58,805,539 (GRCm38)	critical splice donor site	probably null
R1864:AI314180	UTSW	4	58,849,942 (GRCm38)	missense	possibly damaging	0.62
R2029:AI314180	UTSW	4	58,844,165 (GRCm38)	nonsense	probably null
R2061:AI314180	UTSW	4	58,824,270 (GRCm38)	missense	probably damaging	1.00
R2125:AI314180	UTSW	4	58,833,978 (GRCm38)	missense	probably benign
R2266:AI314180	UTSW	4	58,830,332 (GRCm38)	critical splice donor site	probably null
R2889:AI314180	UTSW	4	58,836,165 (GRCm38)	missense	probably benign
R2902:AI314180	UTSW	4	58,809,691 (GRCm38)	missense	probably benign	0.31
R2903:AI314180	UTSW	4	58,828,622 (GRCm38)	missense	possibly damaging	0.50
R2925:AI314180	UTSW	4	58,833,928 (GRCm38)	nonsense	probably null
R4151:AI314180	UTSW	4	58,836,254 (GRCm38)	missense	possibly damaging	0.51
R4225:AI314180	UTSW	4	58,847,027 (GRCm38)	missense	probably damaging	1.00
R4486:AI314180	UTSW	4	58,820,086 (GRCm38)	intron	probably benign
R4576:AI314180	UTSW	4	58,834,708 (GRCm38)	intron	probably benign
R4580:AI314180	UTSW	4	58,840,751 (GRCm38)	missense	probably damaging	1.00
R4654:AI314180	UTSW	4	58,834,523 (GRCm38)	missense	possibly damaging	0.86
R4688:AI314180	UTSW	4	58,840,757 (GRCm38)	missense	probably damaging	0.96
R4726:AI314180	UTSW	4	58,844,191 (GRCm38)	missense	probably damaging	1.00
R4825:AI314180	UTSW	4	58,850,911 (GRCm38)	missense	probably damaging	0.99
R4928:AI314180	UTSW	4	58,827,073 (GRCm38)	missense	probably damaging	1.00
R5098:AI314180	UTSW	4	58,877,048 (GRCm38)	missense	probably damaging	1.00
R5284:AI314180	UTSW	4	58,836,172 (GRCm38)	missense	possibly damaging	0.90
R5375:AI314180	UTSW	4	58,809,401 (GRCm38)	nonsense	probably null
R5382:AI314180	UTSW	4	58,850,934 (GRCm38)	missense	probably benign	0.38
R5487:AI314180	UTSW	4	58,809,421 (GRCm38)	missense	probably benign	0.22
R5703:AI314180	UTSW	4	58,877,171 (GRCm38)	splice site	probably null
R5761:AI314180	UTSW	4	58,853,131 (GRCm38)	missense	probably damaging	1.00
R5791:AI314180	UTSW	4	58,822,111 (GRCm38)	missense	probably damaging	1.00
R5791:AI314180	UTSW	4	58,814,027 (GRCm38)	missense	possibly damaging	0.90
R5928:AI314180	UTSW	4	58,849,948 (GRCm38)	missense	possibly damaging	0.59
R6062:AI314180	UTSW	4	58,826,453 (GRCm38)	missense	possibly damaging	0.84
R6246:AI314180	UTSW	4	58,811,365 (GRCm38)	splice site	probably null
R6298:AI314180	UTSW	4	58,877,157 (GRCm38)	missense	probably damaging	1.00
R6326:AI314180	UTSW	4	58,827,068 (GRCm38)	missense	probably benign	0.34
R6478:AI314180	UTSW	4	58,810,785 (GRCm38)	missense	probably damaging	1.00
R6707:AI314180	UTSW	4	58,879,101 (GRCm38)	missense	possibly damaging	0.52
R6846:AI314180	UTSW	4	58,814,081 (GRCm38)	missense	possibly damaging	0.85
R6857:AI314180	UTSW	4	58,814,065 (GRCm38)	missense	probably damaging	1.00
R6951:AI314180	UTSW	4	58,853,114 (GRCm38)	critical splice donor site	probably null
R7088:AI314180	UTSW	4	58,849,766 (GRCm38)	missense	possibly damaging	0.93
R7302:AI314180	UTSW	4	58,834,593 (GRCm38)	missense	probably benign	0.43
R7337:AI314180	UTSW	4	58,827,047 (GRCm38)	missense	possibly damaging	0.69
R7341:AI314180	UTSW	4	58,809,415 (GRCm38)	missense	possibly damaging	0.94
R7344:AI314180	UTSW	4	58,824,770 (GRCm38)	missense	probably benign	0.08
R7525:AI314180	UTSW	4	58,847,038 (GRCm38)	missense	possibly damaging	0.84
R7530:AI314180	UTSW	4	58,815,317 (GRCm38)	missense	probably damaging	0.99
R7533:AI314180	UTSW	4	58,809,411 (GRCm38)	missense	probably benign	0.12
R7557:AI314180	UTSW	4	58,849,691 (GRCm38)	missense	possibly damaging	0.85
R7698:AI314180	UTSW	4	58,832,660 (GRCm38)	missense	unknown
R7793:AI314180	UTSW	4	58,853,150 (GRCm38)	missense	probably damaging	1.00
R7892:AI314180	UTSW	4	58,828,593 (GRCm38)	missense	probably benign
R7894:AI314180	UTSW	4	58,853,708 (GRCm38)	missense	probably damaging	1.00
R7929:AI314180	UTSW	4	58,869,554 (GRCm38)	missense	probably damaging	1.00
R8010:AI314180	UTSW	4	58,832,681 (GRCm38)	missense	unknown
R8082:AI314180	UTSW	4	58,807,852 (GRCm38)	missense	probably benign	0.00
R8175:AI314180	UTSW	4	58,872,756 (GRCm38)	missense	probably damaging	1.00
R8191:AI314180	UTSW	4	58,872,587 (GRCm38)	critical splice donor site	probably null
R8326:AI314180	UTSW	4	58,847,093 (GRCm38)	missense	probably damaging	1.00
R8459:AI314180	UTSW	4	58,821,379 (GRCm38)	missense	probably damaging	1.00
R8683:AI314180	UTSW	4	58,834,515 (GRCm38)	missense	probably benign	0.31
R8747:AI314180	UTSW	4	58,828,632 (GRCm38)	missense	probably damaging	0.98
R8981:AI314180	UTSW	4	58,801,796 (GRCm38)	missense	probably benign
R9208:AI314180	UTSW	4	58,875,444 (GRCm38)	missense	probably damaging	1.00
R9231:AI314180	UTSW	4	58,875,533 (GRCm38)	missense	probably damaging	1.00
R9249:AI314180	UTSW	4	58,869,427 (GRCm38)	missense	probably damaging	1.00
R9355:AI314180	UTSW	4	58,844,114 (GRCm38)	missense	probably benign	0.23
R9534:AI314180	UTSW	4	58,807,867 (GRCm38)	missense	probably benign
R9555:AI314180	UTSW	4	58,879,083 (GRCm38)	missense	possibly damaging	0.92
R9570:AI314180	UTSW	4	58,832,796 (GRCm38)	nonsense	probably null
R9673:AI314180	UTSW	4	58,822,060 (GRCm38)	missense	probably benign
R9707:AI314180	UTSW	4	58,824,816 (GRCm38)	critical splice acceptor site	probably null
R9721:AI314180	UTSW	4	58,850,938 (GRCm38)	missense	probably benign	0.39
X0060:AI314180	UTSW	4	58,840,752 (GRCm38)	missense	possibly damaging	0.73
Z1177:AI314180	UTSW	4	58,861,614 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGTAGCAGAGCTGGACTTTAG -3'
(R):5'- ACTCCCTAAATTAAGACTTTGTCCC -3'

Sequencing Primer
(F):5'- AGCAGAGCTGGACTTTAGCATTTAG -3'
(R):5'- AGCTCCTGATATAATTGCCAATTTG -3'

Posted On

2022-02-07