Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01695:Gm11639'

104258

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm11639

Ensembl Gene

ENSMUSG00000040838

Gene Name

predicted gene 11639

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL01695

Quality Score

Status

Chromosome

Chromosomal Location

104685707-105117394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104736063 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 864 (E864D)

Ref Sequence

ENSEMBL: ENSMUSP00000116040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000148007] [ENSMUST00000212287]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000148007
AA Change: E864D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116040
Gene: ENSMUSG00000040838
AA Change: E864D

Domain	Start	End	E-Value	Type
low complexity region	40	55	N/A	INTRINSIC
low complexity region	116	129	N/A	INTRINSIC
internal_repeat_4	146	233	3.42e-6	PROSPERO
internal_repeat_3	165	247	2.21e-6	PROSPERO
low complexity region	331	348	N/A	INTRINSIC
internal_repeat_2	349	361	4.38e-8	PROSPERO
internal_repeat_2	371	383	4.38e-8	PROSPERO
low complexity region	385	640	N/A	INTRINSIC
Pfam:EF-hand_8	677	729	8.7e-6	PFAM
low complexity region	835	842	N/A	INTRINSIC
internal_repeat_1	879	1106	2.47e-14	PROSPERO
internal_repeat_4	1015	1108	3.42e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000212287
AA Change: E885D

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3b2	T	A	7: 81,476,939 (GRCm38)		probably benign	Het
Arfgef3	T	C	10: 18,603,419 (GRCm38)	T1483A	probably benign	Het
Arl5a	A	T	2: 52,412,105 (GRCm38)	I99N	probably damaging	Het
Bahcc1	G	A	11: 120,276,609 (GRCm38)	G1279R	probably benign	Het
Bbs5	A	G	2: 69,649,090 (GRCm38)	N43S	probably damaging	Het
Bltp2	T	C	11: 78,265,193 (GRCm38)	V177A	probably benign	Het
Calhm5	A	G	10: 34,092,202 (GRCm38)	V285A	possibly damaging	Het
Cdh23	C	T	10: 60,331,833 (GRCm38)	V1795M	probably benign	Het
Cep350	T	C	1: 155,944,158 (GRCm38)	E353G	probably damaging	Het
Cps1	A	T	1: 67,197,035 (GRCm38)	I976L	probably benign	Het
Ctdp1	A	T	18: 80,449,626 (GRCm38)	S551R	probably damaging	Het
Cyp2b19	C	T	7: 26,759,064 (GRCm38)	T68I	probably damaging	Het
Esr2	A	G	12: 76,145,319 (GRCm38)	S312P	probably damaging	Het
Gm6408	A	G	5: 146,482,129 (GRCm38)		probably benign	Het
Krt9	A	T	11: 100,191,437 (GRCm38)		probably null	Het
Myh6	T	C	14: 54,957,413 (GRCm38)	T662A	probably benign	Het
Ntn1	T	C	11: 68,226,604 (GRCm38)	D473G	probably benign	Het
Or51a7	T	C	7: 102,965,583 (GRCm38)	F161S	probably damaging	Het
Piezo1	A	T	8: 122,495,509 (GRCm38)	C961S	possibly damaging	Het
Pik3c2a	T	C	7: 116,417,518 (GRCm38)	T335A	possibly damaging	Het
Plaa	A	T	4: 94,574,037 (GRCm38)	Y140*	probably null	Het
Plxnb2	T	C	15: 89,157,214 (GRCm38)	I1749V	possibly damaging	Het
Ppp1r9a	T	A	6: 5,064,003 (GRCm38)	N555K	probably damaging	Het
Ptprn2	T	A	12: 116,841,388 (GRCm38)	H174Q	probably benign	Het
Reln	G	A	5: 21,920,438 (GRCm38)	T2749M	probably damaging	Het
Scarf1	A	G	11: 75,521,957 (GRCm38)	N384S	probably damaging	Het
Scrt1	T	A	15: 76,518,950 (GRCm38)	H280L	unknown	Het
Serpina1f	C	A	12: 103,693,684 (GRCm38)	C113F	probably damaging	Het
Setdb2	A	T	14: 59,402,293 (GRCm38)		probably benign	Het
Strc	A	G	2: 121,375,298 (GRCm38)	L830P	probably damaging	Het
Tifab	T	C	13: 56,176,385 (GRCm38)	S82G	probably benign	Het
Tmem217	T	A	17: 29,526,348 (GRCm38)	H136L	probably damaging	Het
Trio	T	C	15: 27,773,001 (GRCm38)	E715G	probably damaging	Het
Ttn	A	T	2: 76,944,016 (GRCm38)	M2182K	probably damaging	Het
Ube2d1	T	C	10: 71,262,252 (GRCm38)	D12G	probably damaging	Het
Utrn	T	C	10: 12,745,342 (GRCm38)	D195G	probably benign	Het

Other mutations in Gm11639

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Gm11639	APN	11	105,100,021 (GRCm38)	missense	probably damaging	1.00
IGL01308:Gm11639	APN	11	104,720,697 (GRCm38)	missense	probably benign	0.03
IGL01483:Gm11639	APN	11	104,739,347 (GRCm38)	missense	probably benign	0.03
IGL01860:Gm11639	APN	11	104,690,921 (GRCm38)	missense	probably benign	0.16
IGL01981:Gm11639	APN	11	104,721,432 (GRCm38)	intron	probably benign
IGL01984:Gm11639	APN	11	104,738,308 (GRCm38)	missense	probably benign	0.20
IGL02023:Gm11639	APN	11	104,721,432 (GRCm38)	intron	probably benign
IGL02252:Gm11639	APN	11	104,753,927 (GRCm38)	missense	possibly damaging	0.68
IGL02886:Gm11639	APN	11	105,095,874 (GRCm38)	missense	possibly damaging	0.95
IGL03116:Gm11639	APN	11	104,721,533 (GRCm38)	missense	probably benign	0.02
IGL03141:Gm11639	APN	11	105,095,870 (GRCm38)	missense	probably damaging	0.99
IGL03242:Gm11639	APN	11	105,106,404 (GRCm38)	missense	probably damaging	1.00
IGL03274:Gm11639	APN	11	104,721,093 (GRCm38)	missense	probably benign	0.03
IGL03408:Gm11639	APN	11	104,710,621 (GRCm38)	missense	probably benign	0.03
R0018:Gm11639	UTSW	11	104,721,552 (GRCm38)	critical splice donor site	probably null
R0068:Gm11639	UTSW	11	104,720,822 (GRCm38)	missense	probably benign	0.29
R0350:Gm11639	UTSW	11	104,690,880 (GRCm38)	missense	probably benign	0.03
R0646:Gm11639	UTSW	11	104,720,501 (GRCm38)	missense	probably benign	0.03
R0668:Gm11639	UTSW	11	104,720,492 (GRCm38)	missense	probably benign	0.16
R0715:Gm11639	UTSW	11	104,720,880 (GRCm38)	missense	possibly damaging	0.90
R0944:Gm11639	UTSW	11	104,710,730 (GRCm38)	splice site	probably null
R1330:Gm11639	UTSW	11	104,746,290 (GRCm38)	missense	possibly damaging	0.84
R1508:Gm11639	UTSW	11	104,710,677 (GRCm38)	missense	probably benign	0.03
R1643:Gm11639	UTSW	11	104,698,978 (GRCm38)	missense	probably benign	0.16
R1651:Gm11639	UTSW	11	104,720,666 (GRCm38)	missense	probably benign	0.03
R1665:Gm11639	UTSW	11	104,721,114 (GRCm38)	missense	probably benign	0.07
R1702:Gm11639	UTSW	11	104,691,006 (GRCm38)	missense	probably benign	0.03
R1711:Gm11639	UTSW	11	104,720,688 (GRCm38)	missense	probably benign	0.07
R1779:Gm11639	UTSW	11	104,720,939 (GRCm38)	missense	probably benign	0.15
R1813:Gm11639	UTSW	11	104,720,688 (GRCm38)	missense	probably benign	0.07
R1818:Gm11639	UTSW	11	104,721,507 (GRCm38)	missense	probably benign	0.10
R1896:Gm11639	UTSW	11	104,720,688 (GRCm38)	missense	probably benign	0.07
R1969:Gm11639	UTSW	11	104,746,264 (GRCm38)	missense	probably damaging	1.00
R2139:Gm11639	UTSW	11	104,751,911 (GRCm38)	missense	possibly damaging	0.53
R2165:Gm11639	UTSW	11	104,751,862 (GRCm38)	missense	possibly damaging	0.93
R2359:Gm11639	UTSW	11	104,739,280 (GRCm38)	missense	possibly damaging	0.80
R2394:Gm11639	UTSW	11	104,738,295 (GRCm38)	missense	probably benign	0.17
R2406:Gm11639	UTSW	11	104,720,631 (GRCm38)	missense	probably benign	0.03
R2570:Gm11639	UTSW	11	104,733,664 (GRCm38)	missense	probably damaging	1.00
R3795:Gm11639	UTSW	11	104,733,675 (GRCm38)	missense	possibly damaging	0.94
R4352:Gm11639	UTSW	11	104,739,314 (GRCm38)	missense	probably null	0.25
R4359:Gm11639	UTSW	11	104,733,721 (GRCm38)	splice site	probably null
R4424:Gm11639	UTSW	11	104,736,114 (GRCm38)	critical splice donor site	probably null
R4895:Gm11639	UTSW	11	104,720,286 (GRCm38)	missense	probably benign	0.16
R4895:Gm11639	UTSW	11	104,749,670 (GRCm38)	missense	probably damaging	1.00
R5006:Gm11639	UTSW	11	104,729,677 (GRCm38)	splice site	probably null
R5066:Gm11639	UTSW	11	104,720,664 (GRCm38)	missense	probably benign	0.03
R5329:Gm11639	UTSW	11	104,753,806 (GRCm38)	splice site	probably null
R5405:Gm11639	UTSW	11	104,721,192 (GRCm38)	missense	probably benign	0.07
R5814:Gm11639	UTSW	11	104,736,114 (GRCm38)	critical splice donor site	probably benign
R5888:Gm11639	UTSW	11	104,721,401 (GRCm38)	splice site	probably benign
R5910:Gm11639	UTSW	11	104,690,934 (GRCm38)	missense	probably benign	0.01
R5975:Gm11639	UTSW	11	104,687,549 (GRCm38)	start gained	probably benign
R6019:Gm11639	UTSW	11	105,042,902 (GRCm38)	critical splice donor site	probably null
R6028:Gm11639	UTSW	11	104,769,655 (GRCm38)	critical splice donor site	probably null
R6048:Gm11639	UTSW	11	104,944,433 (GRCm38)	missense	unknown
R6059:Gm11639	UTSW	11	105,036,769 (GRCm38)	missense	probably benign	0.03
R6147:Gm11639	UTSW	11	104,967,740 (GRCm38)	missense	unknown
R6176:Gm11639	UTSW	11	104,792,557 (GRCm38)	missense	probably benign	0.16
R6181:Gm11639	UTSW	11	104,831,333 (GRCm38)	missense	probably benign	0.25
R6196:Gm11639	UTSW	11	104,855,560 (GRCm38)	missense	probably benign	0.07
R6245:Gm11639	UTSW	11	104,785,008 (GRCm38)	missense	probably benign	0.03
R6262:Gm11639	UTSW	11	104,893,753 (GRCm38)	missense	probably benign	0.24
R6263:Gm11639	UTSW	11	104,919,486 (GRCm38)	missense	unknown
R6277:Gm11639	UTSW	11	105,010,322 (GRCm38)	missense	possibly damaging	0.49
R6338:Gm11639	UTSW	11	104,843,208 (GRCm38)	nonsense	probably null
R6355:Gm11639	UTSW	11	105,005,685 (GRCm38)	missense	probably benign	0.29
R6356:Gm11639	UTSW	11	104,893,707 (GRCm38)	missense	probably benign	0.19
R6365:Gm11639	UTSW	11	104,924,586 (GRCm38)	missense	unknown
R6391:Gm11639	UTSW	11	104,994,317 (GRCm38)	missense	possibly damaging	0.92
R6556:Gm11639	UTSW	11	105,008,251 (GRCm38)	missense	probably null	0.03
R6604:Gm11639	UTSW	11	104,698,946 (GRCm38)	nonsense	probably null
R6605:Gm11639	UTSW	11	104,999,281 (GRCm38)	splice site	probably null
R6634:Gm11639	UTSW	11	104,893,783 (GRCm38)	missense	probably benign	0.17
R6851:Gm11639	UTSW	11	105,005,695 (GRCm38)	missense	probably benign	0.03
R6862:Gm11639	UTSW	11	104,721,458 (GRCm38)	nonsense	probably null
R6949:Gm11639	UTSW	11	104,909,070 (GRCm38)	missense	probably damaging	1.00
R6970:Gm11639	UTSW	11	104,776,356 (GRCm38)	missense	probably benign	0.03
R7014:Gm11639	UTSW	11	104,693,422 (GRCm38)	missense	probably benign	0.03
R7097:Gm11639	UTSW	11	105,008,961 (GRCm38)	missense	possibly damaging	0.68
R7122:Gm11639	UTSW	11	105,008,961 (GRCm38)	missense	possibly damaging	0.68
R7124:Gm11639	UTSW	11	104,738,274 (GRCm38)	missense	probably benign	0.17
R7146:Gm11639	UTSW	11	105,022,938 (GRCm38)	missense	probably benign	0.03
R7146:Gm11639	UTSW	11	104,967,752 (GRCm38)	missense	unknown
R7154:Gm11639	UTSW	11	104,699,140 (GRCm38)	splice site	probably null
R7175:Gm11639	UTSW	11	104,947,411 (GRCm38)	missense	unknown
R7198:Gm11639	UTSW	11	104,751,885 (GRCm38)	missense	probably benign	0.15
R7211:Gm11639	UTSW	11	104,724,609 (GRCm38)	critical splice donor site	probably null
R7211:Gm11639	UTSW	11	104,710,713 (GRCm38)	missense	probably benign	0.01
R7216:Gm11639	UTSW	11	104,880,549 (GRCm38)	missense	possibly damaging	0.49
R7221:Gm11639	UTSW	11	104,900,606 (GRCm38)	missense	probably benign	0.36
R7233:Gm11639	UTSW	11	104,839,843 (GRCm38)	missense	possibly damaging	0.69
R7236:Gm11639	UTSW	11	104,899,267 (GRCm38)	missense	probably benign	0.10
R7262:Gm11639	UTSW	11	104,854,606 (GRCm38)	critical splice donor site	probably null
R7289:Gm11639	UTSW	11	105,038,358 (GRCm38)	missense	probably benign	0.24
R7323:Gm11639	UTSW	11	105,030,011 (GRCm38)	missense	probably benign	0.07
R7378:Gm11639	UTSW	11	104,714,702 (GRCm38)	missense	probably benign	0.03
R7388:Gm11639	UTSW	11	104,721,045 (GRCm38)	missense	probably damaging	0.97
R7390:Gm11639	UTSW	11	104,724,585 (GRCm38)	missense	possibly damaging	0.46
R7411:Gm11639	UTSW	11	104,999,723 (GRCm38)	missense	probably benign	0.10
R7468:Gm11639	UTSW	11	104,749,700 (GRCm38)	missense	probably benign	0.17
R7497:Gm11639	UTSW	11	104,762,690 (GRCm38)	critical splice donor site	probably null
R7620:Gm11639	UTSW	11	104,832,143 (GRCm38)	missense	possibly damaging	0.95
R7638:Gm11639	UTSW	11	105,036,799 (GRCm38)	missense	probably benign	0.03
R7661:Gm11639	UTSW	11	104,726,677 (GRCm38)	missense	probably benign	0.03
R7667:Gm11639	UTSW	11	104,751,911 (GRCm38)	missense	possibly damaging	0.53
R7682:Gm11639	UTSW	11	104,964,348 (GRCm38)	splice site	probably null
R7708:Gm11639	UTSW	11	104,964,571 (GRCm38)	missense	unknown
R7721:Gm11639	UTSW	11	104,724,540 (GRCm38)	nonsense	probably null
R7747:Gm11639	UTSW	11	104,842,603 (GRCm38)	missense	probably damaging	0.96
R7840:Gm11639	UTSW	11	104,733,713 (GRCm38)	missense	probably benign	0.07
R7846:Gm11639	UTSW	11	104,714,745 (GRCm38)	critical splice donor site	probably null
R7893:Gm11639	UTSW	11	104,979,360 (GRCm38)	missense	unknown
R7897:Gm11639	UTSW	11	104,998,235 (GRCm38)	missense	probably benign	0.24
R7936:Gm11639	UTSW	11	105,046,559 (GRCm38)	critical splice donor site	probably null
R7936:Gm11639	UTSW	11	104,999,698 (GRCm38)	missense	possibly damaging	0.89
R7959:Gm11639	UTSW	11	105,042,801 (GRCm38)	missense	probably damaging	0.96
R8031:Gm11639	UTSW	11	104,881,469 (GRCm38)	missense	possibly damaging	0.49
R8041:Gm11639	UTSW	11	104,919,479 (GRCm38)	missense	unknown
R8054:Gm11639	UTSW	11	104,730,400 (GRCm38)	missense	probably benign	0.07
R8056:Gm11639	UTSW	11	104,909,070 (GRCm38)	missense	probably damaging	0.98
R8088:Gm11639	UTSW	11	104,998,246 (GRCm38)	missense	probably benign	0.10
R8112:Gm11639	UTSW	11	104,950,200 (GRCm38)	missense	unknown
R8340:Gm11639	UTSW	11	104,986,030 (GRCm38)	missense	unknown
R8405:Gm11639	UTSW	11	104,721,198 (GRCm38)	missense	probably benign	0.02
R8413:Gm11639	UTSW	11	104,920,309 (GRCm38)	missense	unknown
R8472:Gm11639	UTSW	11	104,818,637 (GRCm38)	missense	probably benign	0.07
R8549:Gm11639	UTSW	11	104,999,695 (GRCm38)	missense	probably damaging	0.99
R8699:Gm11639	UTSW	11	104,781,246 (GRCm38)	missense	probably benign	0.03
R8711:Gm11639	UTSW	11	104,852,545 (GRCm38)	missense	probably benign	0.03
R8732:Gm11639	UTSW	11	104,804,274 (GRCm38)	missense	probably benign	0.03
R8745:Gm11639	UTSW	11	104,858,478 (GRCm38)	missense	possibly damaging	0.57
R8806:Gm11639	UTSW	11	105,037,869 (GRCm38)	missense	probably benign	0.07
R8810:Gm11639	UTSW	11	104,914,895 (GRCm38)	missense	unknown
R8845:Gm11639	UTSW	11	105,008,961 (GRCm38)	missense	possibly damaging	0.68
R8870:Gm11639	UTSW	11	104,900,674 (GRCm38)	missense	probably benign	0.07
R8872:Gm11639	UTSW	11	104,870,054 (GRCm38)	missense	probably benign	0.19
R8879:Gm11639	UTSW	11	104,690,955 (GRCm38)	missense	probably benign	0.03
R8924:Gm11639	UTSW	11	104,915,427 (GRCm38)	frame shift	probably null
R8954:Gm11639	UTSW	11	105,018,699 (GRCm38)	critical splice donor site	probably null
R8960:Gm11639	UTSW	11	104,929,946 (GRCm38)	splice site	probably benign
R8975:Gm11639	UTSW	11	105,063,589 (GRCm38)	missense	probably benign	0.17
R8988:Gm11639	UTSW	11	105,020,526 (GRCm38)	missense	probably benign	0.07
R8998:Gm11639	UTSW	11	104,749,651 (GRCm38)	missense	probably benign	0.09
R8999:Gm11639	UTSW	11	104,749,651 (GRCm38)	missense	probably benign	0.09
R9002:Gm11639	UTSW	11	105,029,996 (GRCm38)	missense	probably damaging	0.99
R9012:Gm11639	UTSW	11	104,820,521 (GRCm38)	critical splice donor site	probably null
R9036:Gm11639	UTSW	11	105,036,775 (GRCm38)	missense	probably benign	0.03
R9037:Gm11639	UTSW	11	104,912,965 (GRCm38)	missense	unknown
R9059:Gm11639	UTSW	11	104,751,863 (GRCm38)	missense	possibly damaging	0.73
R9066:Gm11639	UTSW	11	104,740,862 (GRCm38)	intron	probably benign
R9122:Gm11639	UTSW	11	104,965,779 (GRCm38)	missense	unknown
R9125:Gm11639	UTSW	11	104,845,534 (GRCm38)	missense	probably damaging	1.00
R9127:Gm11639	UTSW	11	104,850,581 (GRCm38)	missense	probably benign	0.07
R9171:Gm11639	UTSW	11	104,909,882 (GRCm38)	missense	probably benign	0.36
R9219:Gm11639	UTSW	11	104,945,865 (GRCm38)	missense	unknown
R9224:Gm11639	UTSW	11	104,770,975 (GRCm38)	missense	probably benign	0.07
R9235:Gm11639	UTSW	11	105,017,161 (GRCm38)	missense	probably benign	0.19
R9294:Gm11639	UTSW	11	104,831,300 (GRCm38)	missense	probably benign	0.24
R9318:Gm11639	UTSW	11	104,965,822 (GRCm38)	critical splice donor site	probably null
R9322:Gm11639	UTSW	11	104,874,373 (GRCm38)	missense	probably benign	0.36
R9361:Gm11639	UTSW	11	105,005,698 (GRCm38)	missense	probably benign	0.03
R9408:Gm11639	UTSW	11	104,730,429 (GRCm38)	critical splice donor site	probably null
R9434:Gm11639	UTSW	11	105,009,037 (GRCm38)	missense	probably benign	0.24
R9477:Gm11639	UTSW	11	104,945,872 (GRCm38)	missense	unknown
R9658:Gm11639	UTSW	11	104,720,294 (GRCm38)	missense	probably benign	0.03
R9719:Gm11639	UTSW	11	104,977,086 (GRCm38)	missense	unknown
R9751:Gm11639	UTSW	11	104,893,085 (GRCm38)	missense	probably benign	0.19
R9763:Gm11639	UTSW	11	104,999,659 (GRCm38)	missense	possibly damaging	0.89
X0026:Gm11639	UTSW	11	104,720,975 (GRCm38)	missense	probably benign	0.07
Z1088:Gm11639	UTSW	11	104,751,902 (GRCm38)	missense	probably damaging	0.96
Z1176:Gm11639	UTSW	11	105,001,967 (GRCm38)	missense	probably benign	0.29
Z1177:Gm11639	UTSW	11	104,820,518 (GRCm38)	missense	probably benign	0.03
Z1177:Gm11639	UTSW	11	104,739,338 (GRCm38)	nonsense	probably null
Z1177:Gm11639	UTSW	11	104,924,019 (GRCm38)	missense	unknown

Posted On

2014-01-21