Mutagenetix > Incidental Mutation

Incidental Mutation 'R8922:Slc44a1'

679311

Institutional Source

Beutler Lab

Gene Symbol

Slc44a1

Ensembl Gene

ENSMUSG00000028412

Gene Name

solute carrier family 44, member 1

Synonyms

2210409B22Rik, CHTL1, Cdw92, 4833416H08Rik, CTL1

MMRRC Submission

068767-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8922 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53440413-53622478 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53544545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 419 (K419E)

Ref Sequence

ENSEMBL: ENSMUSP00000099975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102911] [ENSMUST00000107645] [ENSMUST00000107646] [ENSMUST00000107647] [ENSMUST00000107651]

AlphaFold

Q6X893

Predicted Effect

probably damaging
Transcript: ENSMUST00000102911
AA Change: K419E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099975
Gene: ENSMUSG00000028412
AA Change: K419E

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
transmembrane domain	240	262	N/A	INTRINSIC
Pfam:Choline_transpo	290	610	2.4e-107	PFAM
low complexity region	630	643	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107645
AA Change: K212E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103272
Gene: ENSMUSG00000028412
AA Change: K212E

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	33	55	N/A	INTRINSIC
Pfam:Choline_transpo	83	403	4.8e-108	PFAM
low complexity region	423	436	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107646
AA Change: K419E

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103273
Gene: ENSMUSG00000028412
AA Change: K419E

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
transmembrane domain	240	262	N/A	INTRINSIC
Pfam:Choline_transpo	290	500	4.9e-69	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107647
AA Change: K419E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103274
Gene: ENSMUSG00000028412
AA Change: K419E

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
transmembrane domain	240	262	N/A	INTRINSIC
Pfam:Choline_transpo	292	607	1.8e-105	PFAM
low complexity region	630	643	N/A	INTRINSIC
transmembrane domain	682	704	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107651
AA Change: K419E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103278
Gene: ENSMUSG00000028412
AA Change: K419E

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
transmembrane domain	240	262	N/A	INTRINSIC
Pfam:Choline_transpo	290	610	3.5e-108	PFAM
low complexity region	630	643	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	A	G	8: 88,295,177 (GRCm39)	D105G	possibly damaging	Het
Abhd14b	T	C	9: 106,328,835 (GRCm39)		probably null	Het
Acot1	C	T	12: 84,064,085 (GRCm39)	Q398*	probably null	Het
Adam26b	A	T	8: 43,973,216 (GRCm39)	D595E	probably damaging	Het
Aldh1l1	T	A	6: 90,536,256 (GRCm39)	F54I	probably damaging	Het
Arhgap33	C	T	7: 30,223,417 (GRCm39)	E871K	probably damaging	Het
Aspg	A	T	12: 112,089,830 (GRCm39)	D456V	possibly damaging	Het
Cacna1b	A	C	2: 24,622,340 (GRCm39)	S215A	possibly damaging	Het
Car3	A	T	3: 14,931,952 (GRCm39)	T108S		Het
Ccdc91	C	T	6: 147,412,358 (GRCm39)	Q23*	probably null	Het
Cd300lg	A	T	11: 101,945,028 (GRCm39)	I413F	probably damaging	Het
Ces2h	T	A	8: 105,744,756 (GRCm39)	M378K	probably benign	Het
Cfap44	C	T	16: 44,272,030 (GRCm39)	T1261I	probably benign	Het
Cir1	G	A	2: 73,118,053 (GRCm39)	S164L	possibly damaging	Het
Clasp2	A	T	9: 113,725,728 (GRCm39)	K790*	probably null	Het
Cpne8	A	T	15: 90,456,213 (GRCm39)	D183E	probably damaging	Het
Dhrs13	A	G	11: 77,923,425 (GRCm39)	I48V	possibly damaging	Het
Dpp8	G	T	9: 64,981,793 (GRCm39)	V692L	probably benign	Het
Exoc2	A	T	13: 31,055,838 (GRCm39)	I660N	probably benign	Het
Exosc5	T	C	7: 25,363,673 (GRCm39)	V88A	probably benign	Het
Extl3	G	A	14: 65,292,255 (GRCm39)	T856I	probably damaging	Het
Flnc	T	C	6: 29,456,835 (GRCm39)	V2277A	probably damaging	Het
Frmd8	A	G	19: 5,923,295 (GRCm39)	I52T	probably benign	Het
Gm8947	C	T	1: 151,068,655 (GRCm39)	R163C	probably benign	Het
Golga7	A	T	8: 23,740,288 (GRCm39)	C81S	probably damaging	Het
Grik1	A	C	16: 87,693,167 (GRCm39)	S879A	unknown	Het
Helz	A	G	11: 107,539,985 (GRCm39)	T1002A	possibly damaging	Het
Hes1	T	A	16: 29,884,725 (GRCm39)	L62*	probably null	Het
Hmgn2-ps	A	G	8: 73,058,953 (GRCm39)	S25P	probably benign	Het
Hnrnpdl	A	T	5: 100,184,419 (GRCm39)	Y371*	probably null	Het
Ifna11	T	C	4: 88,738,431 (GRCm39)	V79A	probably benign	Het
Itga4	A	G	2: 79,085,938 (GRCm39)		probably benign	Het
Kap	T	C	6: 133,827,054 (GRCm39)	I110V	probably benign	Het
Lmbrd2	A	G	15: 9,172,231 (GRCm39)	K342E	probably damaging	Het
Lrba	A	G	3: 86,263,973 (GRCm39)	D1549G	probably damaging	Het
Luzp1	C	T	4: 136,270,233 (GRCm39)	H819Y	probably damaging	Het
Mmp21	T	A	7: 133,276,000 (GRCm39)		probably benign	Het
Mto1	T	C	9: 78,377,928 (GRCm39)	V590A	probably benign	Het
Myom3	T	C	4: 135,492,222 (GRCm39)	L122P	probably damaging	Het
Nat10	T	C	2: 103,582,938 (GRCm39)	Y161C	probably damaging	Het
Ncor2	A	G	5: 125,163,939 (GRCm39)	V197A	unknown	Het
Opn4	A	C	14: 34,314,955 (GRCm39)	S439R	probably benign	Het
Or12j3	T	A	7: 139,953,389 (GRCm39)	I45F	possibly damaging	Het
Or4c3d	C	A	2: 89,882,695 (GRCm39)		probably benign	Het
Or56a41	C	A	7: 104,740,469 (GRCm39)	V126L	probably benign	Het
Or5b12b	A	G	19: 12,861,458 (GRCm39)	Y71C	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,957 (GRCm39)	D231E	unknown	Het
Pik3c2a	G	T	7: 116,017,659 (GRCm39)	Q33K	probably damaging	Het
Pm20d1	G	T	1: 131,728,853 (GRCm39)	S93I	possibly damaging	Het
Pou3f1	C	T	4: 124,552,176 (GRCm39)	A226V	possibly damaging	Het
Ppl	T	C	16: 4,923,815 (GRCm39)	E191G	probably benign	Het
Prkag1	T	C	15: 98,712,147 (GRCm39)	T208A	probably benign	Het
Rb1cc1	T	C	1: 6,319,194 (GRCm39)	I871T	probably benign	Het
Rhd	T	C	4: 134,612,627 (GRCm39)	S293P	probably damaging	Het
Rprd2	G	T	3: 95,687,896 (GRCm39)	T252K	probably damaging	Het
Scn5a	C	A	9: 119,363,766 (GRCm39)	R458L	probably benign	Het
Scrib	C	T	15: 75,933,587 (GRCm39)		probably null	Het
Sec24d	G	A	3: 123,144,488 (GRCm39)	G655E	probably damaging	Het
Serpine3	A	G	14: 62,910,503 (GRCm39)	R199G	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Speer4a3	C	T	5: 26,156,594 (GRCm39)	M128I	possibly damaging	Het
Styxl1	T	C	5: 135,776,634 (GRCm39)	E318G	probably benign	Het
Tcstv2a	A	G	13: 120,725,666 (GRCm39)	E110G	probably benign	Het
Tesmin	A	G	19: 3,454,163 (GRCm39)	K346E	probably damaging	Het
Thpo	A	T	16: 20,547,680 (GRCm39)	L6Q	unknown	Het
Tlr2	T	A	3: 83,745,075 (GRCm39)	E336V	probably benign	Het
Tmem167b	A	G	3: 108,467,541 (GRCm39)	L35P	probably benign	Het
Topaz1	A	T	9: 122,625,101 (GRCm39)	E1395D	possibly damaging	Het
Trim29	G	T	9: 43,233,636 (GRCm39)	R434L	possibly damaging	Het
Trim68	T	C	7: 102,327,550 (GRCm39)	I468V	probably benign	Het
Ttn	C	A	2: 76,542,628 (GRCm39)	V33453F	probably benign	Het
Ubac1	A	T	2: 25,896,621 (GRCm39)	V298D	probably damaging	Het
Vmn1r185	C	A	7: 26,310,825 (GRCm39)	V227F	probably damaging	Het
Vmn1r21	T	A	6: 57,820,829 (GRCm39)	H205L	probably damaging	Het
Zbtb16	A	G	9: 48,743,857 (GRCm39)	Y152H	probably benign	Het
Zbtb20	A	T	16: 43,397,968 (GRCm39)	N19I	probably damaging	Het
Zfp438	A	G	18: 5,213,422 (GRCm39)	M512T	possibly damaging	Het

Other mutations in Slc44a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Slc44a1	APN	4	53,543,571 (GRCm39)	missense	probably damaging	1.00
IGL00420:Slc44a1	APN	4	53,553,550 (GRCm39)	missense	possibly damaging	0.86
IGL01369:Slc44a1	APN	4	53,491,448 (GRCm39)	missense	probably damaging	1.00
IGL01867:Slc44a1	APN	4	53,536,405 (GRCm39)	missense	probably damaging	1.00
IGL02188:Slc44a1	APN	4	53,541,361 (GRCm39)	missense	probably benign	0.01
IGL03095:Slc44a1	APN	4	53,536,374 (GRCm39)	nonsense	probably null
R0517:Slc44a1	UTSW	4	53,542,366 (GRCm39)	missense	probably damaging	0.99
R0815:Slc44a1	UTSW	4	53,536,421 (GRCm39)	missense	possibly damaging	0.77
R1437:Slc44a1	UTSW	4	53,561,006 (GRCm39)	missense	probably damaging	1.00
R1443:Slc44a1	UTSW	4	53,561,069 (GRCm39)	missense	probably damaging	1.00
R1673:Slc44a1	UTSW	4	53,542,468 (GRCm39)	missense	probably benign	0.04
R2037:Slc44a1	UTSW	4	53,563,243 (GRCm39)	intron	probably benign
R2131:Slc44a1	UTSW	4	53,563,246 (GRCm39)	frame shift	probably null
R3417:Slc44a1	UTSW	4	53,553,549 (GRCm39)	missense	probably benign	0.04
R3721:Slc44a1	UTSW	4	53,491,445 (GRCm39)	missense	probably damaging	1.00
R3763:Slc44a1	UTSW	4	53,563,286 (GRCm39)	missense	probably benign	0.45
R4426:Slc44a1	UTSW	4	53,563,286 (GRCm39)	missense	probably benign	0.45
R4751:Slc44a1	UTSW	4	53,560,973 (GRCm39)	missense	probably damaging	1.00
R4993:Slc44a1	UTSW	4	53,543,644 (GRCm39)	missense	probably damaging	1.00
R5853:Slc44a1	UTSW	4	53,528,682 (GRCm39)	missense	probably benign	0.00
R6293:Slc44a1	UTSW	4	53,561,099 (GRCm39)	missense	probably damaging	1.00
R6978:Slc44a1	UTSW	4	53,544,671 (GRCm39)	missense	probably damaging	1.00
R7164:Slc44a1	UTSW	4	53,528,711 (GRCm39)	missense	probably benign	0.09
R7838:Slc44a1	UTSW	4	53,517,657 (GRCm39)	missense	probably benign	0.01
R8127:Slc44a1	UTSW	4	53,528,714 (GRCm39)	missense	probably benign	0.00
R8681:Slc44a1	UTSW	4	53,481,510 (GRCm39)	missense	probably damaging	0.99
R9524:Slc44a1	UTSW	4	53,542,389 (GRCm39)	missense	probably benign	0.00
R9596:Slc44a1	UTSW	4	53,544,553 (GRCm39)	missense	probably benign	0.12
R9726:Slc44a1	UTSW	4	53,491,410 (GRCm39)	missense	probably benign	0.25
Z1176:Slc44a1	UTSW	4	53,553,504 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATAAGAACTGCTCTGTTGGTG -3'
(R):5'- GAGAGCCTGGCTAAACACAC -3'

Sequencing Primer
(F):5'- AGAGAAGTGAAGCTGATTTTGTAAC -3'
(R):5'- TGGCTAAACACACTGCTCTC -3'

Posted On

2021-08-02