Mutagenetix > Incidental Mutation

Incidental Mutation 'R4727:Ghitm'

358559

Institutional Source

Beutler Lab

Gene Symbol

Ghitm

Ensembl Gene

ENSMUSG00000041028

Gene Name

growth hormone inducible transmembrane protein

Synonyms

PTD010, Tmbim5, C77840, 1010001P14Rik

MMRRC Submission

041602-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

R4727 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36842401-36857279 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36855700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 8 (C8R)

Ref Sequence

ENSEMBL: ENSMUSP00000153458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042564] [ENSMUST00000165649] [ENSMUST00000224769]

AlphaFold

Q91VC9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042564
AA Change: C8R

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046212
Gene: ENSMUSG00000041028
AA Change: C8R

Domain	Start	End	E-Value	Type
Pfam:BaxI_1	1	94	7.1e-16	PFAM
Pfam:BaxI_1	90	187	1.8e-17	PFAM
Pfam:Bax1-I	122	338	3.8e-42	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165649
AA Change: C8R

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129712
Gene: ENSMUSG00000041028
AA Change: C8R

Domain	Start	End	E-Value	Type
Pfam:BaxI_1	1	94	7.1e-16	PFAM
Pfam:BaxI_1	90	187	1.8e-17	PFAM
Pfam:Bax1-I	122	338	6.2e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223921

Predicted Effect

probably damaging
Transcript: ENSMUST00000224769
AA Change: C8R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,062,489 (GRCm39)	N483S	probably benign	Het
Acoxl	T	G	2: 127,820,658 (GRCm39)	L70R	probably damaging	Het
Ankrd44	A	T	1: 54,706,576 (GRCm39)	F627I	probably benign	Het
Ash2l	A	T	8: 26,308,623 (GRCm39)	I552N	probably damaging	Het
B4galt1	A	G	4: 40,807,812 (GRCm39)	S330P	probably damaging	Het
Bnip3	T	C	7: 138,500,435 (GRCm39)	S52G	probably damaging	Het
Btd	A	G	14: 31,384,278 (GRCm39)	Q88R	probably benign	Het
C4bp	A	G	1: 130,566,922 (GRCm39)	V318A	probably benign	Het
Cacna1e	G	A	1: 154,312,214 (GRCm39)	Q1530*	probably null	Het
Calm1	T	C	12: 100,166,485 (GRCm39)	F23S	probably benign	Het
Cep290	T	G	10: 100,399,132 (GRCm39)	I2218R	probably benign	Het
Ces2c	T	C	8: 105,574,672 (GRCm39)	I43T	probably benign	Het
Cyp2d9	T	C	15: 82,338,602 (GRCm39)	L1P	probably null	Het
Dgki	C	A	6: 37,276,748 (GRCm39)		probably benign	Het
Dhh	A	G	15: 98,796,023 (GRCm39)	L44P	probably damaging	Het
Dnah12	A	G	14: 26,594,274 (GRCm39)	I3409V	probably damaging	Het
Dnah7b	G	A	1: 46,246,816 (GRCm39)	R1664H	probably damaging	Het
Dnah8	T	C	17: 31,070,721 (GRCm39)	M4469T	probably damaging	Het
Ehhadh	T	C	16: 21,581,181 (GRCm39)	I604V	probably benign	Het
Esr1	A	G	10: 4,951,418 (GRCm39)	I599V	probably benign	Het
Faf1	G	A	4: 109,697,564 (GRCm39)	D297N	probably damaging	Het
Gfra1	A	T	19: 58,252,386 (GRCm39)	N380K	probably damaging	Het
Ifna4	C	A	4: 88,760,519 (GRCm39)	T141K	probably benign	Het
Itsn2	A	G	12: 4,757,660 (GRCm39)	Y1424C	probably damaging	Het
Kcnj10	A	G	1: 172,197,266 (GRCm39)	D260G	probably damaging	Het
Klf16	T	C	10: 80,405,020 (GRCm39)	D164G	probably damaging	Het
Klhdc7b	T	A	15: 89,271,785 (GRCm39)	L889Q	probably damaging	Het
Lcmt2	C	G	2: 120,969,911 (GRCm39)	V171L	probably benign	Het
Lrp11	A	G	10: 7,466,348 (GRCm39)	E153G	probably benign	Het
Lrrc43	A	T	5: 123,632,366 (GRCm39)	T170S	probably damaging	Het
Lsr	T	C	7: 30,665,465 (GRCm39)	Y163C	probably damaging	Het
Man1a	A	T	10: 53,783,668 (GRCm39)		probably null	Het
Mmp24	C	T	2: 155,657,819 (GRCm39)	P570S	possibly damaging	Het
Ms4a3	A	G	19: 11,608,742 (GRCm39)	M170T	probably damaging	Het
Naip5	C	A	13: 100,358,378 (GRCm39)	A953S	possibly damaging	Het
Nfrkb	T	C	9: 31,314,919 (GRCm39)	S580P	probably damaging	Het
Or51q1c	T	G	7: 103,653,097 (GRCm39)	V205G	probably benign	Het
Or8b38	T	C	9: 37,973,389 (GRCm39)	Y258H	probably damaging	Het
Padi6	T	G	4: 140,458,506 (GRCm39)	D462A	probably damaging	Het
Pde6a	A	G	18: 61,364,561 (GRCm39)	R206G	probably benign	Het
Plk4	A	G	3: 40,759,589 (GRCm39)	N162D	probably benign	Het
Ptpn13	T	A	5: 103,717,721 (GRCm39)	D1922E	probably benign	Het
Rangap1	G	A	15: 81,613,956 (GRCm39)		probably benign	Het
Rapgef3	A	G	15: 97,658,481 (GRCm39)	L175P	probably damaging	Het
Rps6kb1	G	C	11: 86,435,484 (GRCm39)		probably null	Het
Satb1	T	C	17: 52,111,375 (GRCm39)	Y161C	probably damaging	Het
Sel1l3	C	A	5: 53,301,525 (GRCm39)		probably null	Het
Slc17a7	C	T	7: 44,822,358 (GRCm39)	S398L	possibly damaging	Het
Slc22a4	T	A	11: 53,918,477 (GRCm39)	E109V	possibly damaging	Het
Slc26a7	C	T	4: 14,590,477 (GRCm39)	A105T	probably damaging	Het
Slc47a1	T	C	11: 61,254,277 (GRCm39)	N145S	possibly damaging	Het
Tank	A	G	2: 61,483,876 (GRCm39)	T441A	probably benign	Het
Tefm	T	C	11: 80,031,279 (GRCm39)		probably benign	Het
Ttbk2	T	C	2: 120,575,851 (GRCm39)	Y1042C	probably benign	Het
Wdfy3	T	C	5: 102,077,894 (GRCm39)	Q892R	probably damaging	Het
Wdr33	T	A	18: 32,021,500 (GRCm39)	H683Q	unknown	Het
Zfp36l2	T	A	17: 84,495,089 (GRCm39)	I12F	probably benign	Het
Zfyve26	A	T	12: 79,291,170 (GRCm39)	M2145K	probably benign	Het

Other mutations in Ghitm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Ghitm	APN	14	36,847,203 (GRCm39)	missense	probably benign	0.00
IGL02315:Ghitm	APN	14	36,853,521 (GRCm39)	missense	probably benign	0.04
R0058:Ghitm	UTSW	14	36,853,549 (GRCm39)	missense	probably damaging	1.00
R0058:Ghitm	UTSW	14	36,853,549 (GRCm39)	missense	probably damaging	1.00
R0090:Ghitm	UTSW	14	36,844,176 (GRCm39)	missense	probably benign
R0386:Ghitm	UTSW	14	36,847,868 (GRCm39)	missense	possibly damaging	0.95
R1969:Ghitm	UTSW	14	36,853,586 (GRCm39)	missense	probably benign	0.00
R4019:Ghitm	UTSW	14	36,852,651 (GRCm39)	missense	probably damaging	0.99
R5364:Ghitm	UTSW	14	36,847,174 (GRCm39)	missense	probably damaging	0.99
R5364:Ghitm	UTSW	14	36,847,156 (GRCm39)	missense	probably benign	0.00
R6107:Ghitm	UTSW	14	36,847,166 (GRCm39)	missense	probably damaging	1.00
R6519:Ghitm	UTSW	14	36,847,204 (GRCm39)	missense	probably damaging	0.98
R6587:Ghitm	UTSW	14	36,847,146 (GRCm39)	nonsense	probably null
R6855:Ghitm	UTSW	14	36,847,859 (GRCm39)	missense	probably null	1.00
R7449:Ghitm	UTSW	14	36,853,538 (GRCm39)	missense	probably damaging	1.00
R9429:Ghitm	UTSW	14	36,852,655 (GRCm39)	missense	probably damaging	1.00
R9446:Ghitm	UTSW	14	36,853,606 (GRCm39)	missense	possibly damaging	0.80
R9789:Ghitm	UTSW	14	36,852,719 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTAAGCTACTCCCAAGCAGTG -3'
(R):5'- TCATTGGCTGCCCATTCTAAAC -3'

Sequencing Primer
(F):5'- GCTACTCCCAAGCAGTGAAACTC -3'
(R):5'- GGCTGCCCATTCTAAACTAGATTTG -3'

Posted On

2015-11-11