Mutagenetix > Incidental Mutation

Incidental Mutation 'R1474:Slc41a1'

163857

Institutional Source

Beutler Lab

Gene Symbol

Slc41a1

Ensembl Gene

ENSMUSG00000013275

Gene Name

solute carrier family 41, member 1

Synonyms

B230315F01Rik

MMRRC Submission

039527-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1474 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131755236-131776601 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131774319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 462 (M462K)

Ref Sequence

ENSEMBL: ENSMUSP00000083747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086559]

AlphaFold

Q8BJA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000086559
AA Change: M462K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083747
Gene: ENSMUSG00000013275
AA Change: M462K

Domain	Start	End	E-Value	Type
transmembrane domain	97	119	N/A	INTRINSIC
Pfam:MgtE	138	272	1.9e-25	PFAM
transmembrane domain	283	305	N/A	INTRINSIC
transmembrane domain	314	336	N/A	INTRINSIC
Pfam:MgtE	352	496	1.3e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146360

Meta Mutation Damage Score

0.8136

Coding Region Coverage

1x: 99.3%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

95% (104/110)

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	A	11: 109,960,635 (GRCm39)	A628S	probably damaging	Het
Abca9	T	C	11: 110,036,405 (GRCm39)	N568S	probably damaging	Het
Ada	C	T	2: 163,574,814 (GRCm39)	A108T	possibly damaging	Het
Adam6a	T	A	12: 113,508,069 (GRCm39)	D147E	possibly damaging	Het
Ampd1	A	T	3: 103,006,154 (GRCm39)	T655S	probably damaging	Het
Ankk1	A	G	9: 49,327,139 (GRCm39)	F680S	probably damaging	Het
Asap1	G	A	15: 63,991,869 (GRCm39)	T783I	probably benign	Het
Astn1	T	A	1: 158,329,923 (GRCm39)	N259K	probably damaging	Het
Birc6	T	C	17: 74,886,673 (GRCm39)	V667A	probably damaging	Het
Brat1	G	A	5: 140,698,382 (GRCm39)	V185I	probably benign	Het
Btnl6	T	C	17: 34,732,620 (GRCm39)	Y318C	probably damaging	Het
Caskin2	G	A	11: 115,694,522 (GRCm39)	P360S	probably benign	Het
Ccdc121rt3	T	C	5: 112,503,642 (GRCm39)	T21A	probably benign	Het
Cd68	T	A	11: 69,555,754 (GRCm39)		probably benign	Het
Cdca2	T	C	14: 67,952,355 (GRCm39)		probably benign	Het
Cdk6	G	A	5: 3,523,217 (GRCm39)	M212I	probably benign	Het
Ceacam5	T	A	7: 17,481,159 (GRCm39)	F302Y	probably damaging	Het
Celsr2	T	C	3: 108,301,055 (GRCm39)	E2746G	possibly damaging	Het
Clec4a4	G	A	6: 122,989,703 (GRCm39)	V115I	probably benign	Het
Clip3	C	A	7: 29,998,307 (GRCm39)	A251E	possibly damaging	Het
Cmah	T	C	13: 24,623,180 (GRCm39)	L350P	probably damaging	Het
Cntnap5a	C	T	1: 116,370,103 (GRCm39)	R907*	probably null	Het
Cntnap5b	T	C	1: 99,999,814 (GRCm39)	Y191H	probably benign	Het
Col4a4	A	T	1: 82,458,207 (GRCm39)	C1122*	probably null	Het
Coq5	A	G	5: 115,433,842 (GRCm39)		probably benign	Het
Cpxcr1	A	G	X: 115,387,136 (GRCm39)	K16E	possibly damaging	Het
Dclk3	T	C	9: 111,298,304 (GRCm39)	I616T	probably benign	Het
Dhrs3	A	T	4: 144,646,057 (GRCm39)	T122S	probably damaging	Het
Dnm1	T	C	2: 32,210,596 (GRCm39)	I502V	probably benign	Het
Dscaml1	G	T	9: 45,596,519 (GRCm39)	G788W	probably damaging	Het
Dusp10	C	T	1: 183,769,645 (GRCm39)		probably null	Het
Ehbp1l1	C	A	19: 5,769,112 (GRCm39)	L730F	possibly damaging	Het
Eif2ak1	C	T	5: 143,808,785 (GRCm39)	H75Y	probably damaging	Het
Evi2a	T	C	11: 79,418,398 (GRCm39)	T71A	probably benign	Het
Fam184a	A	T	10: 53,511,461 (GRCm39)	S1073T	probably damaging	Het
Fam227a	T	C	15: 79,499,582 (GRCm39)	Y591C	probably damaging	Het
Fam83a	C	T	15: 57,873,272 (GRCm39)	T367M	probably benign	Het
Fam83g	A	G	11: 61,593,819 (GRCm39)	D451G	probably damaging	Het
Fbn1	A	G	2: 125,203,185 (GRCm39)	F1213L	possibly damaging	Het
Fcgbp	G	A	7: 27,791,273 (GRCm39)	V845I	probably benign	Het
Fermt1	C	T	2: 132,766,942 (GRCm39)	E342K	probably benign	Het
Foxn1	T	A	11: 78,251,933 (GRCm39)	M433L	probably benign	Het
Gm6632	T	G	5: 59,211,679 (GRCm39)		noncoding transcript	Het
Gnl3	A	T	14: 30,738,418 (GRCm39)		probably benign	Het
Hhipl1	C	T	12: 108,277,996 (GRCm39)	T108I	probably damaging	Het
Hs2st1	A	T	3: 144,141,256 (GRCm39)	F271I	possibly damaging	Het
Ido1	T	C	8: 25,074,462 (GRCm39)	S303G	probably damaging	Het
Ints2	C	T	11: 86,117,607 (GRCm39)	R705H	probably damaging	Het
Kcnc2	A	G	10: 112,292,305 (GRCm39)	K49E	probably damaging	Het
Kif3b	T	A	2: 153,162,235 (GRCm39)	V482E	probably damaging	Het
Ldlrad2	G	A	4: 137,299,525 (GRCm39)	P100S	probably benign	Het
Lrba	G	T	3: 86,687,573 (GRCm39)		probably benign	Het
Lsm11	A	T	11: 45,824,730 (GRCm39)	W266R	probably benign	Het
Mob3a	A	T	10: 80,522,988 (GRCm39)	M215K	probably benign	Het
Mterf1b	T	G	5: 4,247,163 (GRCm39)	L268R	probably damaging	Het
Mvk	T	C	5: 114,598,157 (GRCm39)	F365L	probably damaging	Het
Myo16	T	A	8: 10,552,796 (GRCm39)	F945I	probably damaging	Het
Myo1f	G	T	17: 33,813,001 (GRCm39)	K602N	possibly damaging	Het
Nr2c2ap	A	T	8: 70,585,765 (GRCm39)	M108L	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Ogfrl1	A	G	1: 23,414,890 (GRCm39)	F206L	probably damaging	Het
Ola1	A	T	2: 72,987,188 (GRCm39)	I148N	probably damaging	Het
Or14c46	G	T	7: 85,918,270 (GRCm39)	H242Q	probably damaging	Het
Or4d10b	T	A	19: 12,036,844 (GRCm39)	T91S	probably benign	Het
Or51f1d	A	G	7: 102,701,288 (GRCm39)	Y261C	probably damaging	Het
Or6c2	A	T	10: 129,362,824 (GRCm39)	M243L	probably benign	Het
Or9m2	A	G	2: 87,821,334 (GRCm39)	N293S	probably damaging	Het
Otof	A	G	5: 30,536,876 (GRCm39)		probably null	Het
Pah	G	T	10: 87,414,175 (GRCm39)	K341N	probably damaging	Het
Pfdn5	T	A	15: 102,236,946 (GRCm39)		probably null	Het
Piezo2	A	G	18: 63,216,202 (GRCm39)	C960R	probably damaging	Het
Pitx2	T	C	3: 129,012,488 (GRCm39)	V306A	probably damaging	Het
Pkd1l2	C	A	8: 117,792,236 (GRCm39)		probably benign	Het
Plekho1	T	C	3: 95,896,878 (GRCm39)	E197G	probably damaging	Het
Polr2i	A	G	7: 29,932,227 (GRCm39)	N34S	probably damaging	Het
Psph	A	T	5: 129,848,614 (GRCm39)	D22E	probably damaging	Het
Ptprs	C	A	17: 56,731,128 (GRCm39)	A687S	probably damaging	Het
Ralgapa1	T	C	12: 55,788,265 (GRCm39)	K606R	probably benign	Het
Rigi	A	G	4: 40,208,868 (GRCm39)	V703A	possibly damaging	Het
Rims1	A	G	1: 22,577,362 (GRCm39)		probably benign	Het
Rnf213	C	T	11: 119,328,576 (GRCm39)	P2002L	probably damaging	Het
Ryr3	A	T	2: 112,740,307 (GRCm39)	C555S	probably damaging	Het
Sftpd	C	A	14: 40,894,384 (GRCm39)	G345V	probably damaging	Het
Slc44a2	A	G	9: 21,264,990 (GRCm39)	E676G	probably damaging	Het
Sox6	T	A	7: 115,300,926 (GRCm39)		probably benign	Het
Spdye4b	G	A	5: 143,181,472 (GRCm39)	R109Q	probably damaging	Het
Spef1l	C	A	7: 139,556,555 (GRCm39)	R144L	probably benign	Het
Spink8	A	T	9: 109,649,706 (GRCm39)	I63L	probably damaging	Het
St3gal3	A	G	4: 117,871,983 (GRCm39)	L73P	probably damaging	Het
Stab1	A	G	14: 30,871,818 (GRCm39)	L1247P	probably benign	Het
Tat	A	G	8: 110,718,195 (GRCm39)	R27G	probably benign	Het
Tcerg1l	C	T	7: 137,881,804 (GRCm39)	R295H	probably damaging	Het
Tfrc	T	C	16: 32,445,467 (GRCm39)	V596A	probably damaging	Het
Tgfb3	C	T	12: 86,116,120 (GRCm39)		probably null	Het
Tmed5	A	T	5: 108,280,248 (GRCm39)	S15T	probably benign	Het
Tph1	A	T	7: 46,303,286 (GRCm39)	S231T	probably benign	Het
Trim30d	G	A	7: 104,121,701 (GRCm39)	S198L	probably damaging	Het
Trpm6	T	C	19: 18,773,859 (GRCm39)	M412T	probably benign	Het
Ttn	G	T	2: 76,612,589 (GRCm39)	D15417E	probably benign	Het
U2surp	A	G	9: 95,375,251 (GRCm39)	I157T	possibly damaging	Het
Ubr4	A	G	4: 139,156,890 (GRCm39)	D2305G	probably damaging	Het
Uvssa	A	G	5: 33,546,165 (GRCm39)	K179E	probably benign	Het
Vps35l	T	C	7: 118,359,436 (GRCm39)	F230S	probably damaging	Het
Xirp2	A	G	2: 67,355,411 (GRCm39)	K3391E	probably benign	Het
Xpo7	T	A	14: 70,936,473 (GRCm39)	H170L	probably benign	Het
Zrsr2-ps1	T	C	11: 22,924,404 (GRCm39)	W393R	probably benign	Het

Other mutations in Slc41a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Slc41a1	APN	1	131,766,914 (GRCm39)	missense	probably damaging	1.00
IGL01368:Slc41a1	APN	1	131,766,862 (GRCm39)	missense	probably damaging	0.99
R0255:Slc41a1	UTSW	1	131,771,650 (GRCm39)	splice site	probably benign
R0737:Slc41a1	UTSW	1	131,768,690 (GRCm39)	missense	probably damaging	1.00
R1367:Slc41a1	UTSW	1	131,771,746 (GRCm39)	missense	probably benign
R1927:Slc41a1	UTSW	1	131,768,938 (GRCm39)	missense	probably damaging	0.99
R4518:Slc41a1	UTSW	1	131,766,863 (GRCm39)	missense	probably damaging	0.99
R4790:Slc41a1	UTSW	1	131,758,690 (GRCm39)	missense	probably damaging	1.00
R4851:Slc41a1	UTSW	1	131,758,508 (GRCm39)	missense	probably benign	0.02
R5180:Slc41a1	UTSW	1	131,772,115 (GRCm39)	missense	probably damaging	0.99
R5633:Slc41a1	UTSW	1	131,774,325 (GRCm39)	missense	possibly damaging	0.68
R6060:Slc41a1	UTSW	1	131,767,972 (GRCm39)	missense	probably benign	0.04
R6526:Slc41a1	UTSW	1	131,768,887 (GRCm39)	missense	probably damaging	1.00
R6787:Slc41a1	UTSW	1	131,770,487 (GRCm39)	splice site	probably null
R7038:Slc41a1	UTSW	1	131,769,795 (GRCm39)	missense	possibly damaging	0.60
R7258:Slc41a1	UTSW	1	131,769,780 (GRCm39)	missense	probably benign	0.27
R7382:Slc41a1	UTSW	1	131,774,370 (GRCm39)	missense	probably damaging	1.00
R7405:Slc41a1	UTSW	1	131,766,884 (GRCm39)	missense	probably damaging	1.00
R7432:Slc41a1	UTSW	1	131,758,694 (GRCm39)	missense	probably damaging	1.00
R7574:Slc41a1	UTSW	1	131,766,889 (GRCm39)	missense	probably damaging	1.00
R7873:Slc41a1	UTSW	1	131,758,561 (GRCm39)	missense	possibly damaging	0.62
R7942:Slc41a1	UTSW	1	131,768,635 (GRCm39)	missense	probably damaging	0.99
R7956:Slc41a1	UTSW	1	131,771,766 (GRCm39)	missense	possibly damaging	0.53
R9040:Slc41a1	UTSW	1	131,768,623 (GRCm39)	missense	probably damaging	0.98
R9435:Slc41a1	UTSW	1	131,766,896 (GRCm39)	missense	probably damaging	1.00
R9723:Slc41a1	UTSW	1	131,772,103 (GRCm39)	missense	possibly damaging	0.94
Z1177:Slc41a1	UTSW	1	131,771,724 (GRCm39)	missense	probably benign
Z1189:Slc41a1	UTSW	1	131,767,972 (GRCm39)	missense	probably benign	0.04
Z1192:Slc41a1	UTSW	1	131,767,972 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TTAGAAAGCCCCTGGCTTGCTGTG -3'
(R):5'- AGGATGCCAAGGTCCCGATCTAAC -3'

Sequencing Primer
(F):5'- TGAGCTGTCCTGGCAAAAAG -3'
(R):5'- CACCGTGGAATTGCACTTG -3'

Posted On

2014-03-28