Mutagenetix > Incidental Mutation

Incidental Mutation 'R6389:Gm13941'

515671

Institutional Source

Beutler Lab

Gene Symbol

Gm13941

Ensembl Gene

ENSMUSG00000079170

Gene Name

predicted gene 13941

Synonyms

MMRRC Submission

044538-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R6389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110885009-110935204 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110928734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 108 (Q108R)

Ref Sequence

ENSEMBL: ENSMUSP00000115383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127918]

AlphaFold

A2AJ38

Predicted Effect

unknown
Transcript: ENSMUST00000127918
AA Change: Q108R

SMART Domains

Protein: ENSMUSP00000115383
Gene: ENSMUSG00000079170
AA Change: Q108R

Domain	Start	End	E-Value	Type
low complexity region	225	244	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,147,254 (GRCm39)	L326R	possibly damaging	Het
Abcb11	A	T	2: 69,154,238 (GRCm39)	N109K	probably damaging	Het
Actn1	T	A	12: 80,221,296 (GRCm39)	M586L	probably benign	Het
Ago4	T	A	4: 126,401,037 (GRCm39)	I603F	probably damaging	Het
Bicc1	A	T	10: 70,794,752 (GRCm39)	V135D	probably damaging	Het
Bms1	T	C	6: 118,380,196 (GRCm39)	N704D	possibly damaging	Het
Cadm4	A	C	7: 24,198,959 (GRCm39)	Q78P	probably benign	Het
Cfap74	T	C	4: 155,507,793 (GRCm39)	I248T	possibly damaging	Het
Clu	G	C	14: 66,208,771 (GRCm39)		probably benign	Het
Cnnm3	T	C	1: 36,559,603 (GRCm39)	V514A	probably damaging	Het
Cntd1	A	T	11: 101,176,577 (GRCm39)	I225F	probably damaging	Het
Col20a1	T	C	2: 180,634,376 (GRCm39)		probably null	Het
Ctnnal1	A	G	4: 56,813,849 (GRCm39)	V640A	probably benign	Het
Cul4a	A	G	8: 13,190,278 (GRCm39)	T572A	probably benign	Het
D16Ertd472e	A	G	16: 78,342,071 (GRCm39)	S270P	probably damaging	Het
Dmp1	A	T	5: 104,360,788 (GRCm39)	N488I	probably damaging	Het
Dnah14	G	A	1: 181,478,767 (GRCm39)		probably null	Het
Dst	T	C	1: 34,232,265 (GRCm39)	L3464P	probably damaging	Het
Fnbp4	C	T	2: 90,575,879 (GRCm39)	P27S	unknown	Het
Fpr-rs3	A	T	17: 20,844,230 (GRCm39)	F304I	probably damaging	Het
Hcn3	C	T	3: 89,058,240 (GRCm39)	A339T	possibly damaging	Het
Inpp5f	A	G	7: 128,279,780 (GRCm39)	D460G	probably damaging	Het
Ism2	T	C	12: 87,329,145 (GRCm39)	E253G	possibly damaging	Het
Klrg1	T	C	6: 122,248,431 (GRCm39)	N156S	probably damaging	Het
Ksr2	A	G	5: 117,552,907 (GRCm39)	N5S	probably benign	Het
Lrrc7	T	G	3: 157,891,063 (GRCm39)	E368A	probably damaging	Het
Ly9	G	C	1: 171,424,105 (GRCm39)	S482C	probably damaging	Het
Map3k1	T	C	13: 111,905,975 (GRCm39)	D289G	probably damaging	Het
Mcub	T	C	3: 129,712,357 (GRCm39)	T173A	probably benign	Het
Mup16	T	C	4: 61,437,177 (GRCm39)	E48G	probably damaging	Het
Naf1	C	T	8: 67,313,680 (GRCm39)	S24L	possibly damaging	Het
Ncoa6	A	G	2: 155,237,736 (GRCm39)	S2024P	probably damaging	Het
Nop56	C	A	2: 130,119,807 (GRCm39)	Q83K	probably damaging	Het
Nt5e	T	C	9: 88,245,524 (GRCm39)	Y265H	probably damaging	Het
Odad1	G	T	7: 45,597,940 (GRCm39)	V617F	probably benign	Het
Or4a27	A	G	2: 88,559,016 (GRCm39)	V309A	probably benign	Het
Or52p2	A	T	7: 102,237,679 (GRCm39)	N90K	probably benign	Het
Or5w8	C	T	2: 87,688,367 (GRCm39)	P283S	probably damaging	Het
Oxct2a	T	A	4: 123,217,220 (GRCm39)	K54*	probably null	Het
Oxct2b	G	T	4: 123,010,367 (GRCm39)	D96Y	probably benign	Het
Pisd	A	G	5: 32,922,191 (GRCm39)	Y250H	probably damaging	Het
Plekhm1	G	T	11: 103,257,720 (GRCm39)	N1071K	probably benign	Het
Prr11	G	A	11: 86,989,564 (GRCm39)	T269I	possibly damaging	Het
Ptpn4	T	A	1: 119,649,684 (GRCm39)	H304L	probably damaging	Het
Rrp1b	A	G	17: 32,275,601 (GRCm39)	K383E	possibly damaging	Het
Sel1l2	C	A	2: 140,087,274 (GRCm39)	A466S	probably damaging	Het
Slc9a4	A	G	1: 40,619,844 (GRCm39)	I57V	probably benign	Het
Spag9	A	G	11: 93,977,137 (GRCm39)	E81G	probably damaging	Het
Tbr1	A	G	2: 61,636,631 (GRCm39)		probably benign	Het
Tnrc6c	A	G	11: 117,613,567 (GRCm39)	D735G	probably damaging	Het
Tspan17	A	T	13: 54,943,429 (GRCm39)		probably null	Het
Tyw5	T	C	1: 57,430,658 (GRCm39)	K175R	probably damaging	Het
Ube2o	A	C	11: 116,439,684 (GRCm39)	I162R	probably null	Het
Ubr1	G	T	2: 120,711,520 (GRCm39)	T1458K	probably benign	Het
Vmn2r16	A	T	5: 109,478,344 (GRCm39)	Q33L	probably benign	Het
Zfp1007	G	A	5: 109,823,885 (GRCm39)	P522S	possibly damaging	Het
Zfp799	A	G	17: 33,039,552 (GRCm39)	L238P	probably damaging	Het

Other mutations in Gm13941

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00323:Gm13941	APN	2	110,935,198 (GRCm39)	missense	unknown
IGL00420:Gm13941	APN	2	110,922,193 (GRCm39)	splice site	probably benign
IGL01149:Gm13941	APN	2	110,931,482 (GRCm39)	missense	unknown
IGL01319:Gm13941	APN	2	110,925,150 (GRCm39)	critical splice acceptor site	probably null
IGL02557:Gm13941	APN	2	110,931,501 (GRCm39)	missense	unknown
IGL03163:Gm13941	APN	2	110,928,761 (GRCm39)	missense	unknown
R0067:Gm13941	UTSW	2	110,889,761 (GRCm39)	unclassified	noncoding transcript
R0918:Gm13941	UTSW	2	110,930,945 (GRCm39)	missense	unknown
R2315:Gm13941	UTSW	2	110,935,162 (GRCm39)	missense	unknown
R3847:Gm13941	UTSW	2	110,935,198 (GRCm39)	missense	unknown
R3848:Gm13941	UTSW	2	110,935,198 (GRCm39)	missense	unknown
R5416:Gm13941	UTSW	2	110,925,079 (GRCm39)	missense	unknown
R5574:Gm13941	UTSW	2	110,930,951 (GRCm39)	missense	unknown
R6616:Gm13941	UTSW	2	110,931,520 (GRCm39)	missense	unknown
R7056:Gm13941	UTSW	2	110,927,147 (GRCm39)	missense	unknown
R7455:Gm13941	UTSW	2	110,925,085 (GRCm39)	missense	unknown
R8197:Gm13941	UTSW	2	110,926,921 (GRCm39)	splice site	probably null
R9116:Gm13941	UTSW	2	110,935,146 (GRCm39)	missense	unknown
R9164:Gm13941	UTSW	2	110,936,324 (GRCm39)	missense	unknown
R9536:Gm13941	UTSW	2	110,918,861 (GRCm39)	missense	unknown
R9763:Gm13941	UTSW	2	110,931,518 (GRCm39)	missense	unknown
Z1177:Gm13941	UTSW	2	110,925,123 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCATTGTTTGTGCCTTCAGG -3'
(R):5'- CCAGCTATTGTTCTTAAACTGCAC -3'

Sequencing Primer
(F):5'- GTGCCTTCAGGTAGTTAGTCATAAC -3'
(R):5'- ACCTCAGTTTGTATGCATGTAAAAG -3'

Posted On

2018-05-04