Mutagenetix > Incidental Mutation

Incidental Mutation 'R7006:Gm13178'

544711

Institutional Source

Beutler Lab

Gene Symbol

Gm13178

Ensembl Gene

ENSMUSG00000041735

Gene Name

predicted gene 13178

Synonyms

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_001085536.1; MGI: 3650721

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R7006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144703191-144721404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144721283 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 41 (V41A)

Ref Sequence

ENSEMBL: ENSMUSP00000045343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036876]

AlphaFold

B1AVU7

Predicted Effect

probably benign
Transcript: ENSMUST00000036876
AA Change: V41A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000045343
Gene: ENSMUSG00000041735
AA Change: V41A

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
transmembrane domain	43	60	N/A	INTRINSIC
low complexity region	79	84	N/A	INTRINSIC
Pfam:Abhydrolase_3	116	286	2.3e-27	PFAM
Pfam:Abhydrolase_3	287	382	8.8e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	G	A	13: 68,888,020	T174M	probably damaging	Het
Ankfy1	T	A	11: 72,740,464	I412N	probably benign	Het
AW146154	T	C	7: 41,481,224	E156G	possibly damaging	Het
B4galnt1	T	C	10: 127,169,831	L267P	probably benign	Het
Bod1l	T	C	5: 41,832,552	E276G	probably damaging	Het
Ccdc187	T	C	2: 26,281,090	T459A	probably benign	Het
Cep72	G	A	13: 74,050,308	Q311*	probably null	Het
Cir1	T	C	2: 73,310,490	Q45R	probably damaging	Het
Ciz1	T	C	2: 32,371,115		probably null	Het
Crtap	G	T	9: 114,386,323	A166E	probably damaging	Het
Dmp1	A	G	5: 104,212,322	D288G	probably benign	Het
Dusp27	T	C	1: 166,099,094	N983S	probably benign	Het
Fam69a	A	G	5: 107,910,161	V132A	probably benign	Het
Fhad1	CGG	CG	4: 141,918,291		probably null	Het
Fmnl2	C	A	2: 53,108,254	Q544K	probably benign	Het
Gm6657	T	A	12: 78,208,928	*177R	probably null	Het
Gpsm1	T	C	2: 26,322,560	L72P	probably damaging	Het
Gys1	G	A	7: 45,440,013	A199T	probably damaging	Het
Kcnq3	A	C	15: 66,020,316	Y403*	probably null	Het
Kcp	A	C	6: 29,499,170	Y298D	probably damaging	Het
Kif5c	T	C	2: 49,735,514	S599P	probably damaging	Het
Krt20	A	T	11: 99,437,761	Y113N	probably benign	Het
Mcm8	T	G	2: 132,823,261	V191G	probably damaging	Het
Msr1	T	A	8: 39,589,382	D384V	probably damaging	Het
Mtpap	A	C	18: 4,380,873	S184R	possibly damaging	Het
Npc1l1	G	A	11: 6,217,731	T1020M	probably benign	Het
Nphp4	A	G	4: 152,488,802	T66A	probably benign	Het
Olfr1049	T	A	2: 86,255,228	Q155L	probably benign	Het
Olfr1100	G	A	2: 86,977,959	T279I	probably damaging	Het
Olfr1306	C	A	2: 111,912,256	V225L	probably benign	Het
Olfr98	T	A	17: 37,262,734	*310L	probably null	Het
Phf11d	G	T	14: 59,353,374	T178K	probably benign	Het
Ppm1d	A	G	11: 85,337,151	K298E	possibly damaging	Het
Rab2b	A	T	14: 52,266,233	I144K	probably benign	Het
Stoml1	A	G	9: 58,260,240	D5G	probably damaging	Het
Tanc1	T	C	2: 59,795,844	V515A	probably damaging	Het
Tas1r3	A	G	4: 155,862,904	V108A	possibly damaging	Het
Tcrg-C4	T	A	13: 19,344,825		probably benign	Het
Tifab	T	C	13: 56,176,246	Y128C	probably benign	Het
Tmc6	G	T	11: 117,774,257	R397S	probably damaging	Het
Tnpo3	C	T	6: 29,589,163	A63T	probably damaging	Het
Usp16	G	T	16: 87,471,836	C284F	probably damaging	Het
Wipf1	T	C	2: 73,437,097	D319G	probably damaging	Het
Xpnpep3	T	A	15: 81,442,448	W347R	probably damaging	Het
Zfp180	G	T	7: 24,105,112	E319*	probably null	Het

Other mutations in Gm13178

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Gm13178	APN	4	144703693	missense	possibly damaging	0.87
IGL01985:Gm13178	APN	4	144715454	nonsense	probably null
IGL02587:Gm13178	APN	4	144703399	missense	possibly damaging	0.94
P0018:Gm13178	UTSW	4	144703197	missense	probably benign	0.00
R0395:Gm13178	UTSW	4	144703195	missense	probably benign	0.14
R1617:Gm13178	UTSW	4	144715391	missense	probably damaging	1.00
R3802:Gm13178	UTSW	4	144703504	missense	possibly damaging	0.82
R4409:Gm13178	UTSW	4	144721302	missense	possibly damaging	0.86
R4577:Gm13178	UTSW	4	144703753	missense	probably damaging	1.00
R4603:Gm13178	UTSW	4	144703228	missense	probably benign	0.00
R5069:Gm13178	UTSW	4	144703867	missense	probably damaging	1.00
R5801:Gm13178	UTSW	4	144703636	missense	probably damaging	1.00
R5802:Gm13178	UTSW	4	144703636	missense	probably damaging	1.00
R5893:Gm13178	UTSW	4	144703196	missense	probably benign
R6148:Gm13178	UTSW	4	144721317	missense	possibly damaging	0.89
R6466:Gm13178	UTSW	4	144703867	missense	probably damaging	1.00
R6655:Gm13178	UTSW	4	144705245	missense	probably damaging	1.00
R7021:Gm13178	UTSW	4	144715492	missense	probably damaging	1.00
R7030:Gm13178	UTSW	4	144703603	missense	possibly damaging	0.85
R7514:Gm13178	UTSW	4	144703228	missense	possibly damaging	0.66
R7773:Gm13178	UTSW	4	144703477	missense	probably damaging	0.98
R7791:Gm13178	UTSW	4	144703445	missense	probably damaging	1.00
R8012:Gm13178	UTSW	4	144703402	missense	possibly damaging	0.48
R8082:Gm13178	UTSW	4	144715327	missense	probably damaging	1.00
R9250:Gm13178	UTSW	4	144715441	missense	probably benign	0.04
R9721:Gm13178	UTSW	4	144703372	missense	possibly damaging	0.94
Z1176:Gm13178	UTSW	4	144703325	missense	probably damaging	1.00
Z1177:Gm13178	UTSW	4	144703646	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- AGAGTCCTGGAATTCCCTTTCC -3'
(R):5'- TCCACAAGTTCAGAGGTAAGGTC -3'

Sequencing Primer
(F):5'- GTGGAGCAAGATGCCCTTAATCC -3'
(R):5'- TCCTCAGGACAGCCATTCCTAG -3'

Posted On

2019-05-13