Mutagenetix > Incidental Mutation

Incidental Mutation 'R2379:Gm10801'

328532

Institutional Source

Beutler Lab

Gene Symbol

Gm10801

Ensembl Gene

ENSMUSG00000075015

Gene Name

predicted gene 10801

Synonyms

MMRRC Submission

040355-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.366) question?

Stock #

R2379 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

98492582-98494428 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 98494185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 109 (S109I)

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
AA Change: S109I

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097276
Gene: ENSMUSG00000075015
AA Change: S109I

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: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

93% (37/40)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	T	C	11: 53,299,305 (GRCm39)		probably benign	Het
Anpep	T	C	7: 79,490,966 (GRCm39)	T209A	probably benign	Het
Asb16	A	G	11: 102,163,357 (GRCm39)	T116A	probably benign	Het
Brd10	G	T	19: 29,696,275 (GRCm39)	Q1140K	probably benign	Het
Btc	A	T	5: 91,524,768 (GRCm39)		probably benign	Het
C4b	T	C	17: 34,954,717 (GRCm39)	D860G	possibly damaging	Het
Cd177	G	A	7: 24,457,468 (GRCm39)	T191I	possibly damaging	Het
Cngb1	A	G	8: 95,986,758 (GRCm39)	L378P	probably damaging	Het
Ddx60	T	C	8: 62,490,122 (GRCm39)	F1697S	probably damaging	Het
Dop1a	G	A	9: 86,403,138 (GRCm39)	S1446N	probably damaging	Het
Fn1	T	A	1: 71,688,443 (GRCm39)	K154*	probably null	Het
Ifi204	T	A	1: 173,583,559 (GRCm39)	R220*	probably null	Het
Limk1	A	G	5: 134,708,335 (GRCm39)		probably benign	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Mms22l	T	A	4: 24,496,929 (GRCm39)	S8T	possibly damaging	Het
Mpp7	T	A	18: 7,403,345 (GRCm39)	R322*	probably null	Het
Mycbp2	T	C	14: 103,412,386 (GRCm39)	N2529S	probably benign	Het
Npr3	A	G	15: 11,883,449 (GRCm39)	F327L	probably damaging	Het
Or12j3	A	T	7: 139,952,748 (GRCm39)	Y258*	probably null	Het
Or14c41	T	G	7: 86,235,400 (GRCm39)	F306V	probably benign	Het
Or14c46	T	C	7: 85,918,857 (GRCm39)	T47A	probably damaging	Het
Or51f5	A	T	7: 102,424,052 (GRCm39)	H107L	probably benign	Het
Or5p1	T	C	7: 107,916,499 (GRCm39)	S133P	probably benign	Het
Or6c217	A	T	10: 129,737,781 (GRCm39)	V266E	probably damaging	Het
Or7e177	T	C	9: 20,211,963 (GRCm39)	S157P	possibly damaging	Het
Pld2	A	T	11: 70,445,140 (GRCm39)	Y580F	probably benign	Het
Scart2	A	T	7: 139,879,682 (GRCm39)	D990V	probably benign	Het
Sik3	A	G	9: 46,066,707 (GRCm39)	E162G	probably damaging	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Spen	T	C	4: 141,244,238 (GRCm39)	T266A	unknown	Het
Tnks1bp1	A	G	2: 84,894,182 (GRCm39)	S1370G	probably benign	Het
Usp28	A	G	9: 48,914,395 (GRCm39)	R99G	probably null	Het
Vmn2r13	T	G	5: 109,319,644 (GRCm39)	E445D	probably benign	Het
Vmn2r27	A	G	6: 124,201,342 (GRCm39)	I205T	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
R1321: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
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'- ATCTGTGTAGAAAGCTGTTGCTC -3'
(R):5'- ACTTTCTCTAGCCCCGGAAAC -3'

Sequencing Primer
(F):5'- TGGCTCAATGGCAGAGTGC -3'
(R):5'- CCCCGGAAACCTTGAGGAATATG -3'

Posted On

2015-07-08