Mutagenetix > Incidental Mutation

Incidental Mutation 'R6640:Gm10801'

525706

Institutional Source

Beutler Lab

Gene Symbol

Gm10801

Ensembl Gene

ENSMUSG00000075015

Gene Name

predicted gene 10801

Synonyms

MMRRC Submission

044761-MU

Accession Numbers

Essential gene?

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

Stock #

R6640 (G1)

Quality Score

107.467

Status

Not validated

Chromosome

Chromosomal Location

98492582-98494428 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to CGTG at 98494152 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 null
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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

97% (31/32)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,530,248 (GRCm39)	N936K	probably benign	Het
Abca2	A	T	2: 25,337,015 (GRCm39)	Y2318F	possibly damaging	Het
Aldh1b1	A	G	4: 45,803,868 (GRCm39)	T469A	possibly damaging	Het
Aoc1l1	A	G	6: 48,954,605 (GRCm39)	D581G	probably benign	Het
Ccdc136	A	G	6: 29,412,959 (GRCm39)	D382G	possibly damaging	Het
Dapk1	A	G	13: 60,864,628 (GRCm39)	K141E	probably damaging	Het
Dnah6	A	T	6: 73,001,276 (GRCm39)	W3973R	probably damaging	Het
Dock10	G	T	1: 80,511,555 (GRCm39)	S1518*	probably null	Het
Elovl5	C	A	9: 77,887,195 (GRCm39)	Y195*	probably null	Het
Fbxl21	T	A	13: 56,684,822 (GRCm39)	W309R	probably damaging	Het
Gpx1	A	G	9: 108,217,295 (GRCm39)	D133G	probably damaging	Het
Hoxd1	T	A	2: 74,593,606 (GRCm39)	V54E	probably damaging	Het
Kcnh3	T	C	15: 99,139,649 (GRCm39)	V876A	probably benign	Het
Klri2	G	C	6: 129,709,158 (GRCm39)	F231L	probably benign	Het
Mogat1	T	G	1: 78,500,411 (GRCm39)	S158R	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Or2ag13	T	A	7: 106,313,247 (GRCm39)	I214F	probably damaging	Het
Or8k16	T	A	2: 85,520,279 (GRCm39)	C169S	probably damaging	Het
Otog	G	A	7: 45,911,167 (GRCm39)	A673T	possibly damaging	Het
Pigm	T	C	1: 172,205,254 (GRCm39)	V330A	probably damaging	Het
Rab33b	A	G	3: 51,391,900 (GRCm39)	T50A	possibly damaging	Het
Raver2	C	T	4: 100,988,500 (GRCm39)	P371L	probably damaging	Het
Rpl15-ps6	G	T	15: 52,341,016 (GRCm39)		noncoding transcript	Het
Sh3rf2	T	A	18: 42,234,705 (GRCm39)	Y163N	probably damaging	Het
Slc1a1	T	C	19: 28,871,970 (GRCm39)		probably null	Het
Slc6a18	T	A	13: 73,812,401 (GRCm39)	Y563F	possibly damaging	Het
Sp3	A	G	2: 72,801,458 (GRCm39)	L185P	possibly damaging	Het
Thbs2	T	C	17: 14,893,630 (GRCm39)	D850G	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmtc2	T	A	10: 105,409,610 (GRCm39)	M1L	probably benign	Het
Trpm2	C	T	10: 77,773,660 (GRCm39)	R585Q	probably benign	Het
Trpm3	T	A	19: 22,955,946 (GRCm39)	I1126K	probably damaging	Het
Ugt1a6b	A	C	1: 88,035,516 (GRCm39)	T285P	probably benign	Het
Vps13b	A	G	15: 35,617,842 (GRCm39)	T1181A	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
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
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'- ATGCACACTGTAAGACCTGG -3'

Posted On

2018-06-22