Mutagenetix > Incidental Mutation

Incidental Mutation 'R2306:Gm10801'

321719

Institutional Source

Beutler Lab

Gene Symbol

Gm10801

Ensembl Gene

ENSMUSG00000075015

Gene Name

predicted gene 10801

Synonyms

MMRRC Submission

040305-MU

Accession Numbers

Essential gene?

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

Stock #

R2306 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

98492582-98494428 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 98494352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Threonine at position 143 (R143T)

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

possibly damaging
Transcript: ENSMUST00000099684
AA Change: R143T

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097276
Gene: ENSMUSG00000075015
AA Change: R143T

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

0.1795

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.2%
20x: 94.4%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	G	A	17: 43,024,010 (GRCm39)	H154Y	possibly damaging	Het
Arhgef7	T	A	8: 11,862,680 (GRCm39)	Y501*	probably null	Het
Atmin	T	C	8: 117,684,389 (GRCm39)	F683S	probably benign	Het
Bcat1	A	G	6: 144,953,379 (GRCm39)	V403A	probably damaging	Het
C4b	T	G	17: 34,947,492 (GRCm39)	M1729L	probably benign	Het
Cdh23	A	G	10: 60,159,224 (GRCm39)	S2185P	probably damaging	Het
Crispld2	T	G	8: 120,752,810 (GRCm39)	V286G	probably damaging	Het
Ctsw	T	C	19: 5,517,010 (GRCm39)		probably null	Het
Dnai1	T	C	4: 41,625,239 (GRCm39)	V401A	probably benign	Het
Ifitm2	T	A	7: 140,535,702 (GRCm39)	T43S	probably damaging	Het
Mark1	A	T	1: 184,633,058 (GRCm39)		probably benign	Het
Mme	A	G	3: 63,207,673 (GRCm39)	I40V	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nfatc2	A	C	2: 168,432,023 (GRCm39)	F30C	probably damaging	Het
Npr2	T	A	4: 43,633,609 (GRCm39)	V251D	probably damaging	Het
Pax8	T	A	2: 24,333,057 (GRCm39)	Y96F	probably damaging	Het
Ppp1r13b	T	C	12: 111,811,327 (GRCm39)	E187G	probably damaging	Het
Rbp3	A	T	14: 33,684,520 (GRCm39)	D1183V	probably damaging	Het
Reln	T	G	5: 22,101,784 (GRCm39)	D3382A	probably damaging	Het
Rfc3	A	G	5: 151,567,243 (GRCm39)	L271P	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sdk1	C	T	5: 141,948,455 (GRCm39)	A600V	probably benign	Het
Sfr1	T	C	19: 47,723,291 (GRCm39)	I265T	probably damaging	Het
Syt13	G	A	2: 92,771,312 (GRCm39)	R133H	probably benign	Het
Tmem231	A	T	8: 112,645,503 (GRCm39)	V132D	probably damaging	Het
Tmem247	C	A	17: 87,225,869 (GRCm39)	A103E	probably benign	Het
Unc119b	A	T	5: 115,263,534 (GRCm39)	Y223*	probably null	Het
Vmn1r196	T	A	13: 22,477,473 (GRCm39)	F37L	probably benign	Het
Vps13c	T	A	9: 67,895,275 (GRCm39)	Y3627N	probably damaging	Het
Zfp292	C	A	4: 34,809,468 (GRCm39)	S1192I	probably 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
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'- GCCCATCTGTGTAGAAAGCTG -3'
(R):5'- GTCTACTAAGGAGGCCACAAAC -3'

Sequencing Primer
(F):5'- CCAGGTCTTACAGTGTGCAC -3'
(R):5'- TCTACTAAGGAGGCCACAAACAACTG -3'

Posted On

2015-06-18