Mutagenetix > Incidental Mutation

Incidental Mutation 'R9630:Ifitm10'

725433

Institutional Source

Beutler Lab

Gene Symbol

Ifitm10

Ensembl Gene

ENSMUSG00000045777

Gene Name

interferon induced transmembrane protein 10

Synonyms

6330512M04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R9630 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141879574-141927490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 141924909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 48 (A48T)

Ref Sequence

ENSEMBL: ENSMUSP00000101608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059223] [ENSMUST00000066401] [ENSMUST00000084412] [ENSMUST00000105988] [ENSMUST00000151120]

AlphaFold

Q8BR26

Predicted Effect

probably benign
Transcript: ENSMUST00000059223

SMART Domains

Protein: ENSMUSP00000062728
Gene: ENSMUSG00000045777

Domain	Start	End	E-Value	Type
Pfam:Dispanin	38	108	6.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066401

SMART Domains

Protein: ENSMUSP00000063904
Gene: ENSMUSG00000007891

Domain	Start	End	E-Value	Type
Pfam:A1_Propeptide	21	49	1.7e-11	PFAM
Pfam:Asp	78	274	1.6e-75	PFAM
Pfam:TAXi_N	79	246	2.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084412

SMART Domains

Protein: ENSMUSP00000081450
Gene: ENSMUSG00000045777

Domain	Start	End	E-Value	Type
Pfam:Dispanin	38	121	9e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105988
AA Change: A48T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101608
Gene: ENSMUSG00000045777
AA Change: A48T

Domain	Start	End	E-Value	Type
low complexity region	53	74	N/A	INTRINSIC
Pfam:CD225	115	191	2.4e-23	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000117247
Gene: ENSMUSG00000110040
AA Change: A270T

Domain	Start	End	E-Value	Type
Pfam:Asp	1	249	4.5e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151120

SMART Domains

Protein: ENSMUSP00000121203
Gene: ENSMUSG00000007891

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:A1_Propeptide	21	48	6.9e-11	PFAM
Pfam:Asp	78	407	4.7e-123	PFAM
Pfam:TAXi_N	79	247	2.1e-10	PFAM
Pfam:TAXi_C	326	406	6.4e-9	PFAM

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l1	A	G	6: 48,952,756 (GRCm39)	D227G	probably damaging	Het
Arhgap17	A	G	7: 122,907,540 (GRCm39)	M274T	probably benign	Het
Bco2	T	C	9: 50,456,757 (GRCm39)	T128A	possibly damaging	Het
Bcr	T	A	10: 74,966,950 (GRCm39)	L519Q	probably damaging	Het
Cadps2	A	T	6: 23,587,571 (GRCm39)	S306R	probably benign	Het
Cage1	T	C	13: 38,206,855 (GRCm39)	E330G	probably damaging	Het
Ccdc8	A	G	7: 16,728,733 (GRCm39)	K74R	possibly damaging	Het
Cdc42ep2	C	A	19: 5,968,363 (GRCm39)	G114V		Het
Celsr3	T	C	9: 108,704,296 (GRCm39)	S260P	probably benign	Het
Clic4	G	A	4: 134,944,476 (GRCm39)	T233I	probably damaging	Het
Clip2	C	A	5: 134,531,934 (GRCm39)	D624Y	probably damaging	Het
Clock	A	G	5: 76,393,281 (GRCm39)	S221P	probably benign	Het
Creb3l2	G	T	6: 37,356,808 (GRCm39)	S86R	possibly damaging	Het
Cspp1	G	A	1: 10,108,292 (GRCm39)		probably benign	Het
Dusp13b	A	T	14: 21,784,974 (GRCm39)	N128K	probably benign	Het
Efnb2	T	C	8: 8,670,617 (GRCm39)	S328G	probably damaging	Het
Egf	A	G	3: 129,518,844 (GRCm39)	L335P	possibly damaging	Het
Eml4	T	A	17: 83,717,572 (GRCm39)	V48D	probably damaging	Het
Fat2	A	C	11: 55,147,605 (GRCm39)	V3879G	probably benign	Het
Fcgbpl1	T	C	7: 27,836,624 (GRCm39)	L181P	probably damaging	Het
Flnb	T	A	14: 7,926,438 (GRCm38)	Y1827*	probably null	Het
Fuca2	A	T	10: 13,378,820 (GRCm39)	Y71F	probably benign	Het
Gcn1	C	A	5: 115,741,349 (GRCm39)	H1463N	probably damaging	Het
Iqce	T	C	5: 140,666,591 (GRCm39)	D385G	possibly damaging	Het
Kdm5b	T	A	1: 134,512,971 (GRCm39)		probably null	Het
Kdm7a	A	T	6: 39,150,239 (GRCm39)	S178T	probably damaging	Het
Mmp12	T	A	9: 7,347,516 (GRCm39)	M31K	probably benign	Het
Mon2	C	T	10: 122,874,415 (GRCm39)	R311H	probably damaging	Het
Myh15	A	G	16: 48,980,341 (GRCm39)	T1488A	probably benign	Het
Myo15a	T	A	11: 60,407,988 (GRCm39)	C3159S	probably damaging	Het
Nf1	T	C	11: 79,302,470 (GRCm39)	V346A	probably damaging	Het
Nfkbib	A	T	7: 28,461,304 (GRCm39)	Y114*	probably null	Het
Nr2c1	T	A	10: 93,998,285 (GRCm39)	D76E	probably benign	Het
Obscn	G	A	11: 58,943,397 (GRCm39)	R4251C	probably benign	Het
Or1ak2	T	C	2: 36,827,653 (GRCm39)	I174T	probably damaging	Het
Or4a74	C	A	2: 89,440,349 (GRCm39)	M32I	probably benign	Het
Or5m10b	A	G	2: 85,699,493 (GRCm39)	M186V	probably benign	Het
Or6c33	T	C	10: 129,853,410 (GRCm39)	F60S	probably damaging	Het
Or8h7	A	C	2: 86,720,956 (GRCm39)	S188A	probably damaging	Het
Pced1a	A	T	2: 130,261,109 (GRCm39)	I416N	probably benign	Het
Pdzd2	G	T	15: 12,374,443 (GRCm39)	D1897E	probably benign	Het
Pign	A	T	1: 105,481,591 (GRCm39)	F802I	probably benign	Het
Pik3c2g	C	A	6: 139,599,237 (GRCm39)	Q118K	possibly damaging	Het
Plcl2	A	G	17: 50,947,147 (GRCm39)	M1009V	probably benign	Het
Ppil6	T	A	10: 41,370,550 (GRCm39)	D59E	probably benign	Het
Rad23a	T	C	8: 85,564,919 (GRCm39)	D152G	probably benign	Het
Rif1	A	G	2: 51,979,607 (GRCm39)	I430V	probably damaging	Het
Rint1	T	C	5: 24,020,810 (GRCm39)	V611A	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sall4	A	G	2: 168,596,408 (GRCm39)	S811P	probably benign	Het
Scaf11	G	A	15: 96,316,049 (GRCm39)	P1172S	probably damaging	Het
Sel1l3	T	G	5: 53,342,117 (GRCm39)	N368H	possibly damaging	Het
Sele	C	A	1: 163,879,523 (GRCm39)	P352Q	probably damaging	Het
Serpinf1	T	A	11: 75,301,852 (GRCm39)	T268S	probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Sis	A	T	3: 72,828,722 (GRCm39)	N1152K	probably benign	Het
Slc16a13	T	C	11: 70,108,597 (GRCm39)	E411G	possibly damaging	Het
Slc22a23	T	C	13: 34,379,390 (GRCm39)	N459S	possibly damaging	Het
Srpk1	C	A	17: 28,819,404 (GRCm39)	K268N	probably benign	Het
Ssbp3	A	G	4: 106,895,426 (GRCm39)	Y258C	probably damaging	Het
Ssc5d	C	T	7: 4,939,426 (GRCm39)	P621S	probably damaging	Het
Strada	T	C	11: 106,077,781 (GRCm39)	Q61R	unknown	Het
Strn3	G	A	12: 51,657,013 (GRCm39)	T755I	probably damaging	Het
Taf4b	C	G	18: 14,930,077 (GRCm39)	P150A	probably damaging	Het
Tmem236	T	A	2: 14,223,815 (GRCm39)	H201Q	probably benign	Het
Top3b	A	G	16: 16,710,354 (GRCm39)	E728G	probably benign	Het
Tshr	C	T	12: 91,504,409 (GRCm39)	P449L	probably damaging	Het
Ugt2b36	C	T	5: 87,239,773 (GRCm39)	G204D	possibly damaging	Het
Vldlr	A	T	19: 27,207,623 (GRCm39)	Q37L	probably damaging	Het
Zfat	A	T	15: 67,990,793 (GRCm39)	I1031N	probably benign	Het

Other mutations in Ifitm10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02827:Ifitm10	APN	7	141,882,317 (GRCm39)	missense	unknown
R0647:Ifitm10	UTSW	7	141,909,772 (GRCm39)	missense	probably damaging	0.99
R2044:Ifitm10	UTSW	7	141,909,771 (GRCm39)	missense	probably damaging	1.00
R3785:Ifitm10	UTSW	7	141,882,335 (GRCm39)	missense	possibly damaging	0.56
R7203:Ifitm10	UTSW	7	141,882,305 (GRCm39)	missense	probably benign	0.06
R8077:Ifitm10	UTSW	7	141,924,704 (GRCm39)	missense	probably damaging	1.00
R8677:Ifitm10	UTSW	7	141,909,749 (GRCm39)	missense	probably benign	0.20
R8954:Ifitm10	UTSW	7	141,882,300 (GRCm39)	missense	probably benign	0.07
R9393:Ifitm10	UTSW	7	141,924,704 (GRCm39)	missense	probably damaging	1.00
R9394:Ifitm10	UTSW	7	141,924,704 (GRCm39)	missense	probably damaging	1.00
R9395:Ifitm10	UTSW	7	141,924,704 (GRCm39)	missense	probably damaging	1.00
R9396:Ifitm10	UTSW	7	141,924,704 (GRCm39)	missense	probably damaging	1.00
R9486:Ifitm10	UTSW	7	141,909,812 (GRCm39)	missense	probably damaging	1.00
RF008:Ifitm10	UTSW	7	141,882,330 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTAGACCTCGATGACTGTGG -3'
(R):5'- AAATGCTGCAAGGCTCCAG -3'

Sequencing Primer
(F):5'- GTCATCGTCTTCTTCTCAGCTAAGTG -3'
(R):5'- TGCAAGGCTCCAGGTTGG -3'

Posted On

2022-09-12