Mutagenetix > Incidental Mutation

Incidental Mutation 'R1321:Gm10801'

250596

Institutional Source

Beutler Lab

Gene Symbol

Gm10801

Ensembl Gene

ENSMUSG00000075015

Gene Name

predicted gene 10801

Synonyms

MMRRC Submission

039387-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.332) question?

Stock #

R1321 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

98492582-98494428 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 98494252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099683] [ENSMUST00000099684]

AlphaFold

F7C7Q0

Predicted Effect

probably benign
Transcript: ENSMUST00000099683

SMART Domains

Protein: ENSMUSP00000097275
Gene: ENSMUSG00000075014

Domain	Start	End	E-Value	Type
internal_repeat_1	1	41	1.13e-5	PROSPERO
internal_repeat_2	26	49	4.11e-5	PROSPERO
transmembrane domain	78	96	N/A	INTRINSIC
internal_repeat_1	114	174	1.13e-5	PROSPERO
low complexity region	177	188	N/A	INTRINSIC
internal_repeat_2	197	219	4.11e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000099684

SMART Domains

Protein: ENSMUSP00000097276
Gene: ENSMUSG00000075015

Domain	Start	End	E-Value	Type
internal_repeat_1	2	73	1.19e-13	PROSPERO
internal_repeat_1	80	167	1.19e-13	PROSPERO

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.0%
20x: 89.1%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,945,318 (GRCm39)		probably benign	Het
Aco2	C	T	15: 81,779,394 (GRCm39)	S33L	probably damaging	Het
C2cd2l	A	G	9: 44,228,878 (GRCm39)		probably null	Het
Cass4	T	A	2: 172,266,572 (GRCm39)	L205Q	probably benign	Het
Ccn3	G	T	15: 54,612,642 (GRCm39)	C217F	probably damaging	Het
Celsr3	G	A	9: 108,713,069 (GRCm39)	D1834N	probably damaging	Het
Col12a1	A	T	9: 79,524,991 (GRCm39)	C2723*	probably null	Het
Cps1	A	G	1: 67,182,178 (GRCm39)		probably benign	Het
Dolpp1	A	G	2: 30,285,748 (GRCm39)	I49V	possibly damaging	Het
Dppa2	A	G	16: 48,131,999 (GRCm39)	E32G	possibly damaging	Het
Eif2b5	C	T	16: 20,323,439 (GRCm39)	R397*	probably null	Het
Far2	G	T	6: 148,075,034 (GRCm39)		probably benign	Het
Fbxo42	C	T	4: 140,895,160 (GRCm39)	T41I	probably benign	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Galnt13	G	A	2: 54,988,606 (GRCm39)	R476Q	probably damaging	Het
Galnt18	A	T	7: 111,378,639 (GRCm39)	V39E	probably benign	Het
Gm21954	C	T	3: 55,379,627 (GRCm39)		probably benign	Het
Lct	A	C	1: 128,227,759 (GRCm39)	L1245V	probably benign	Het
Lgr5	T	C	10: 115,314,362 (GRCm39)	T192A	probably damaging	Het
Mrpl42	C	T	10: 95,329,573 (GRCm39)	V46M	probably damaging	Het
Mybpc1	C	T	10: 88,365,403 (GRCm39)	V907M	possibly damaging	Het
Mybpc1	T	A	10: 88,406,463 (GRCm39)	Y127F	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Otud4	T	C	8: 80,396,579 (GRCm39)	S613P	probably benign	Het
P2ry12	T	C	3: 59,124,646 (GRCm39)	E343G	possibly damaging	Het
Pbrm1	A	C	14: 30,789,459 (GRCm39)	K670T	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Reg3b	A	G	6: 78,349,936 (GRCm39)		probably null	Het
Sppl3	TGG	TG	5: 115,226,352 (GRCm39)		probably null	Het
Ssr2	T	C	3: 88,484,261 (GRCm39)		probably benign	Het
Syne3	A	C	12: 104,942,055 (GRCm39)	V29G	probably benign	Het
Ubr4	T	C	4: 139,187,434 (GRCm39)	V3834A	possibly damaging	Het
Vmn2r112	C	T	17: 22,837,500 (GRCm39)	Q654*	probably null	Het
Vmn2r14	C	T	5: 109,364,117 (GRCm39)	V600I	probably benign	Het
Zfp251	C	T	15: 76,738,436 (GRCm39)	R219Q	possibly damaging	Het

Other mutations in Gm10801

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Gm10801	APN	2	98,494,328 (GRCm39)	missense	probably benign
IGL01154:Gm10801	APN	2	98,494,328 (GRCm39)	missense	probably benign
Haplo	UTSW	2	98,494,252 (GRCm39)	splice site	probably benign
Ladder	UTSW	2	98,494,246 (GRCm39)	splice site	probably null
PIT4131001:Gm10801	UTSW	2	98,492,648 (GRCm39)	missense	probably benign
PIT4142001:Gm10801	UTSW	2	98,492,648 (GRCm39)	missense	probably benign
R0026:Gm10801	UTSW	2	98,494,254 (GRCm39)	splice site	probably benign
R0063:Gm10801	UTSW	2	98,494,185 (GRCm39)	missense	probably benign	0.30
R0334:Gm10801	UTSW	2	98,494,352 (GRCm39)	missense	possibly damaging	0.66
R0335:Gm10801	UTSW	2	98,494,352 (GRCm39)	missense	possibly damaging	0.66
R1172:Gm10801	UTSW	2	98,494,252 (GRCm39)	splice site	probably benign
R1871:Gm10801	UTSW	2	98,494,185 (GRCm39)	missense	probably benign	0.30
R1924:Gm10801	UTSW	2	98,494,197 (GRCm39)	missense	probably damaging	1.00
R2163:Gm10801	UTSW	2	98,494,352 (GRCm39)	missense	possibly damaging	0.66
R2306:Gm10801	UTSW	2	98,494,352 (GRCm39)	missense	possibly damaging	0.66
R2379:Gm10801	UTSW	2	98,494,185 (GRCm39)	missense	probably benign	0.30
R3078:Gm10801	UTSW	2	98,494,197 (GRCm39)	missense	probably damaging	1.00
R3605:Gm10801	UTSW	2	98,494,352 (GRCm39)	missense	possibly damaging	0.66
R3892:Gm10801	UTSW	2	98,494,246 (GRCm39)	splice site	probably null
R3930:Gm10801	UTSW	2	98,494,361 (GRCm39)	missense	possibly damaging	0.48
R4638:Gm10801	UTSW	2	98,494,352 (GRCm39)	missense	possibly damaging	0.66
R4709:Gm10801	UTSW	2	98,494,246 (GRCm39)	splice site	probably null
R5390:Gm10801	UTSW	2	98,494,151 (GRCm39)	small insertion	probably benign
R5405:Gm10801	UTSW	2	98,494,151 (GRCm39)	small insertion	probably benign
R5535:Gm10801	UTSW	2	98,492,844 (GRCm39)	frame shift	probably null
R5653:Gm10801	UTSW	2	98,494,396 (GRCm39)	missense	probably damaging	1.00
R5747:Gm10801	UTSW	2	98,494,352 (GRCm39)	missense	possibly damaging	0.66
R5987:Gm10801	UTSW	2	98,494,152 (GRCm39)	nonsense	probably null
R6086:Gm10801	UTSW	2	98,494,148 (GRCm39)	nonsense	probably null
R6090:Gm10801	UTSW	2	98,494,151 (GRCm39)	small insertion	probably benign
R6093:Gm10801	UTSW	2	98,494,152 (GRCm39)	nonsense	probably null
R6112:Gm10801	UTSW	2	98,494,409 (GRCm39)	missense	probably benign	0.00
R6184:Gm10801	UTSW	2	98,494,151 (GRCm39)	small insertion	probably benign
R6352:Gm10801	UTSW	2	98,494,151 (GRCm39)	small insertion	probably benign
R6357:Gm10801	UTSW	2	98,494,152 (GRCm39)	frame shift	probably null
R6395:Gm10801	UTSW	2	98,494,152 (GRCm39)	small insertion	probably benign
R6514:Gm10801	UTSW	2	98,494,214 (GRCm39)	missense	probably benign	0.19
R6547:Gm10801	UTSW	2	98,494,148 (GRCm39)	nonsense	probably null
R6560:Gm10801	UTSW	2	98,494,152 (GRCm39)	nonsense	probably null
R6640:Gm10801	UTSW	2	98,494,152 (GRCm39)	nonsense	probably null
R6675:Gm10801	UTSW	2	98,494,151 (GRCm39)	small insertion	probably benign
R6679:Gm10801	UTSW	2	98,494,151 (GRCm39)	small insertion	probably benign
R6684:Gm10801	UTSW	2	98,494,152 (GRCm39)	nonsense	probably null
R6758:Gm10801	UTSW	2	98,494,152 (GRCm39)	nonsense	probably null
R6786:Gm10801	UTSW	2	98,494,148 (GRCm39)	nonsense	probably null
R6886:Gm10801	UTSW	2	98,494,151 (GRCm39)	small insertion	probably benign
R7783:Gm10801	UTSW	2	98,494,152 (GRCm39)	nonsense	probably null
R8032:Gm10801	UTSW	2	98,494,152 (GRCm39)	nonsense	probably null
R8684:Gm10801	UTSW	2	98,492,669 (GRCm39)	frame shift	probably null
R8831:Gm10801	UTSW	2	98,494,334 (GRCm39)	missense	probably damaging	0.96
R8843:Gm10801	UTSW	2	98,494,151 (GRCm39)	small insertion	probably benign
R8946:Gm10801	UTSW	2	98,492,669 (GRCm39)	frame shift	probably null
R9135:Gm10801	UTSW	2	98,494,152 (GRCm39)	nonsense	probably null
R9136:Gm10801	UTSW	2	98,494,152 (GRCm39)	nonsense	probably null
R9423:Gm10801	UTSW	2	98,494,148 (GRCm39)	nonsense	probably null
R9773:Gm10801	UTSW	2	98,494,345 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCAGAGCTACTGAGCGAAAGTCC -3'
(R):5'- GCAAACTTTCTCTAGCCCCGGAAAC -3'

Sequencing Primer
(F):5'- ttccacctttttcagttttcctc -3'
(R):5'- CCCGGAAACCTTGAGGAATATG -3'

Posted On

2014-11-20